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Metabolic Brain Disease

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https://www.readbyqxmd.com/read/28921412/how-close-are-we-to-therapies-for-sanfilippo-disease
#1
REVIEW
Lidia Gaffke, Karolina Pierzynowska, Ewa Piotrowska, Grzegorz Węgrzyn
Sanfilippo disease is one of mucopolysaccharidoses (MPS), a group of lysosomal storage diseases characterized by accumulation of partially degraded glycosaminoglycans (GAGs). It is classified as MPS type III, though it is caused by four different genetic defects, determining subtypes A, B, C and D. In each subtype of MPS III, the primary storage GAG is heparan sulfate (HS), but mutations leading to A, B, C, and D subtypes are located in genes coding for heparan N-sulfatase (the SGSH gene), α-N-acetylglucosaminidase (the NAGLU gene), acetyl-CoA:α-glucosaminide acetyltransferase (the HGSNAT gene), and N-acetylglucosamine-6-sulfatase (the GNS gene), respectively...
September 18, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28918510/acquired-hepatocerebral-degeneration-ahd-a-peculiar-neurological-impairment-in-advanced-chronic-liver-disease
#2
A Pigoni, F Iuculano, C Saetti, L Airaghi, L Burdick, S Spreafico, M Curioni, R Lombardi, L Valenti, A L Fracanzani, S Fargion
We discuss the case of a rare and often unrecognized neurologic syndrome, called Acquired Hepatocerebral Degeneration (AHD), observed in patients with advanced liver disease and portosystemic shunts. The clinical manifestations can be very heterogeneous and in our case included a combination of cerebellar and extrapyramidal signs, arisen in a period of few days. Brain Magnetic Resonance Imaging (MRI) showed, in T1-weighted images, diffuse bilateral hyper intensities in basal ganglia and biemispheric brain and cerebellar cortices, resembling paramagnetic deposits...
September 16, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28918469/aversive-and-non-aversive-memory-impairment-in-the-mucopolysaccharidosis-ii-mouse-model
#3
Amanda Stapenhorst Azambuja, Lilian Correa, Bernardo Pappi Gabiatti, Giselle Renata Martins, Álvaro de Oliveira Franco, Maria Flávia Marques Ribeiro, Guilherme Baldo
Hunter syndrome (MPS II, OMIM 309900) is a lysosomal storage disorder due to deficient iduronate sulphatase activity. Patients present multiple cognitive alterations, and the aim of this work was to verify if MPS II mice also present some progressive cognitive alterations. For that, MPS II mice from 2 to 6 months of age were submitted to repeated open field and inhibitory avoidance tests to evaluate memory parameters. MPS II mice presented impaired memory at 6 months evaluated by open field test. They also performed poorly in the inhibitory avoidance test from 4 months...
September 16, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28913780/anxiolytic-like-effects-of-%C3%AE-asarone-in-a-mouse-model-of-chronic-pain
#4
Jiao Tian, Zhen Tian, Shu-Li Qin, Pu-Yu Zhao, Xun Jiang, Zhen Tian
α-asarone (ASR) is a major bioactive compound isolated from the rhizome of Acorus tatarinowii Schott and it has extensive biological effects. Clinically, anxiety disorder is a common comorbidity of chronic pain. However, limited information is available regarding the effects of ASR on chronic pain-related anxiety. This study aims to evaluate the anxiolytic effects of ASR in chronic pain mice. Chronic inflammatory pain was induced by hind-paw injection of complete Freund's adjuvant (CFA). Behavioral tests, western-blot analysis and whole-cell patch recordings were performed to evaluate the subsequent events...
September 15, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28900819/a-homozygous-pigo-mutation-associated-with-severe-infantile-epileptic-encephalopathy-and-corpus-callosum-hypoplasia-but-normal-alkaline-phosphatase-levels
#5
Yoav Zehavi, Anja von Renesse, Etty Daniel-Spiegel, Yonatan Sapir, Luci Zalman, Ilana Chervinsky, Markus Schuelke, Rachel Straussberg, Ronen Spiegel
We describe two sisters from a consanguineous Arab family with global developmental delay, dystrophy, axial hypotonia, epileptic encephalopathy dominated by intractable complex partial seizures that were resistant to various anti-epileptic treatments. Dysmorphic features comprised low set ears, hypertelorism, upslanting palpebral fissures, a broad nasal bridge, and blue sclera with elongated eyelashes. Brain MRI in both children showed a corpus callosum hypoplasia that was evident already in utero and evolving cortical atrophy...
September 13, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28879565/comparative-computational-assessment-of-the-pathogenicity-of-mutations-in-the-aspartoacylase-enzyme
#6
C George Priya Doss, Hatem Zayed
Aspartoacylase (ASPA) is a zinc-dependent abundant enzyme in the brain, which catalyzes the conversion of N-acetyl aspartate (NAA) into acetate and aspartate. Mutations in the ASPA gene are associated with the development of Canavan disease (CD), leading to the deficiency of ASPA activity. Patients with CD were characterized by degeneration of the white matter of the brain. We reported earlier on two patients with severe form of CD that both had two novel missense mutations in the ASPA: c.427 A > G; p. I143V and c...
September 6, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28879430/high-mobility-group-box-1-enhances-hyperthermia-induced-seizures-and-secondary-epilepsy-associated-with-prolonged-hyperthermia-induced-seizures-in-developing-rats
#7
Masanori Ito, Hisaaki Takahashi, Hajime Yano, Yusuke I Shimizu, Yoshiaki Yano, Yoshito Ishizaki, Junya Tanaka, Eiichi Ishii, Mitsumasa Fukuda
Levels of high mobility group box 1 (HMGB1), an important inflammatory mediator, are high in the serum of febrile seizure (FS) patients. However, its roles in FS and secondary epilepsy after prolonged FS are poorly understood. We demonstrate HMGB1's role in the pathogenesis of hyperthermia-induced seizures (HS) and secondary epilepsy after prolonged hyperthermia-induced seizures (pHS). In the first experiment, 14-15-day-old male rats were divided into four groups: high-dose HMGB1 (100 μg), moderate-dose (10 μg), low-dose (1 μg), and control...
September 6, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28875427/epileptic-seizures-in-nonalcoholic-wernicke-s-encephalopathy-a-case-report-and-literature-review
#8
Wenjin Shang, Xiuhui Chen, Xunhua Li, Hongbing Chen, Shujin Tang, Hua Hong
Wernicke encephalopathy (WE) is characterized by eye signs, cerebellar dysfunction, and confusion. Epileptic seizures are rare in nonalcoholic WE. We reviewed the clinical, laboratory, radiological, and prognostic characteristics of nonalcoholic WE accompanied by epileptic seizures. We reported 1 case and searched similar cases using PubMed, WoK, Ovid, and Embase. WE was diagnosed according to dietary deficiencies, clinical symptoms and brain magnetic resonance imaging (MRI). We reviewed 13 patients (median age, 27 years; 5 men) with clear histories of thiamine deficiency and symptoms of typical WE...
September 6, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28875419/lactulose-decreases-neuronal-activation-and-attenuates-motor-behavioral-deficits-in-hyperammonemic-rats
#9
Natália Ferreira Mendes, Flora França Nogueira Mariotti, José Simões de Andrade, Milena de Barros Viana, Isabel Cristina Céspedes, Márcia Regina Nagaoka, Luciana Le Sueur-Maluf
Lactulose is a nonabsorbable disaccharide commonly used in clinical practice to treat hepatic encephalopathy. However, its effects on neuropsychiatric disorders and motor behavior have not been fully elucidated. Male Wistar rats were bile-duct ligated, and 3 weeks after surgery, treated with lactulose administrated by gavage (1.43 or 3.57 g/kg), once a day for seven days. Plasma levels of ammonia, aspartate aminotransferase, total bilirubin, and creatinine were quantified and histopathological analysis of the livers was performed...
September 5, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28875386/novel-spg20-mutation-in-an-extended-family-with-troyer-syndrome
#10
S Bizzari, A R Hamzeh, P Nair, M Mohamed, F Saif, G Aithala, M T Al-Ali, F Bastaki
Troyer Syndrome (TRS) is a rare autosomal recessive complicated spastic paraplegia disorder characterized by various neurological and musculoskeletal manifestations. Pathogenicity stems from mutations in SPG20 which encodes Spartin, a multifunctional protein that is thought to be essential for neuron viability. Here we report on the clinical and molecular characterization of TRS in five patients from an extended consanguineous family in the United Arab Emirates. Molecular analysis involved Whole Exome Sequencing and Sanger sequencing for identification and confirmation of the causative variant respectively...
September 5, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28875337/clinical-and-molecular-analysis-of-6-chinese-patients-with-isoleucine-metabolism-defects-identification-of-3-novel-mutations-in-the-hsd17b10-and-acat1-gene
#11
Ling Su, Xiuzhen Li, Ruizhu Lin, Huiying Sheng, Zhichun Feng, Li Liu
Hydroxysteroid (17β) dehydrogenase 10 (HSD10) and mitochondrial acetoacetyl-CoA thiolase (β-KT) are two adjacent enzymes for the degradation of isoleucine, thus HSD10 and β-KT deficiencies are confusing at an early stage because of nearly the same elevation of typical metabolites in urine, such as 2-methyl-3-hydroxybutyric acid (2M3HBA) and tiglylglycine (TG). In order to better understand the differences between these two disorders, we described the clinical and molecular characteristics of two HSD10 deficiency patients and four β-KT deficiency patients...
September 5, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28875262/erratum-to-asparagine-synthetase-deficiency-report-of-a-novel-mutation-and-review-of-literature
#12
Neerja Gupta, Vishal Vishnu Tewari, Manoj Kumar, Nitika Langeh, Aditi Gupta, Pallavi Mishra, Punit Kaur, Vedam Ramprasad, Sakthivel Murugan, Reema Kumar, Manisha Jana, Madhulika Kabra
No abstract text is available yet for this article.
September 5, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28868593/mutation-in-the-agk-gene-in-two-siblings-with-unusual-sengers-syndrome
#13
Sanae Allali, Imen Dorboz, Simon Samaan, Abdelhamid Slama, Charlène Rambaud, Odile Boespflug-Tanguy, Catherine Sarret
Sengers syndrome is a rare autosomal recessive metabolic disorder caused by lack of acylglycerol kinase due to mutations in the AGK gene. It is characterized by congenital cataract, hypertrophic cardiomyopathy, myopathy and lactic acidosis. Two clinical forms have been described: a severe neonatal form, and a more benign form displaying exercise intolerance. We describe two siblings with congenital cataract, cardiomyopathy, hypotonia, intellectual disability and lactic acidosis. Whole exome sequencing revealed a homozygous c...
September 3, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28868581/in-human-brain-ornithine-transcarbamylase-otc-immunoreactivity-is-strongly-expressed-in-a-small-number-of-nitrergic-neurons
#14
Hans-Gert Bernstein, Hendrik Dobrowolny, Gerburg Keilhoff, Johann Steiner
There is recent evidence for ornithine transcarbamylase (OTC) expression in adult human brain. We decided to immunocytochemically map OTC throughout brain, and to further characterize OTC-immunopositive neurons. By using double immunolabeling technique for OTC and neuronal nitric oxide synthase (nNOS) OTC protein expression was revealed in a small subset of nitrergic (nNOS) neurons. Since citrulline (the reaction product of OTC) enhances the bioavailability of L-arginine, the substrate of nNOS, it is conceivable that OTC activity supports NO production in nitrergic neurons...
September 3, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28861684/curcumin-revitalizes-amyloid-beta-25-35-induced-and-organophosphate-pesticides-pestered-neurotoxicity-in-sh-sy5y-and-imr-32-cells-via-activation-of-ape1-and-nrf2
#15
Bibekananda Sarkar, Monisha Dhiman, Sunil Mittal, Anil K Mantha
Amyloid beta (Aβ) peptide deposition is the primary cause of neurodegeneration in Alzheimer's disease (AD) pathogenesis. Several reports point towards the role of pesticides in the AD pathogenesis, especially organophosphate pesticides (OPPs). Monocrotophos (MCP) and Chlorpyrifos (CP) are the most widely used OPPs. In this study, the role of MCP and CP in augmenting the Aβ-induced oxidative stress associated with the neurodegeneration in AD has been assessed in human neuroblastoma IMR-32 and SH-SY5Y cell lines...
August 31, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28852932/bioenergetic-variation-is-related-to-autism-symptomatology
#16
Leanna Delhey, Ekim Nur Kilinc, Li Yin, John Slattery, Marie Tippett, Rebecca Wynne, Shannon Rose, Stephen Kahler, Shirish Damle, Agustin Legido, Michael J Goldenthal, Richard E Frye
Autism spectrum disorder (ASD) has been associated with mitochondrial dysfunction but few studies have examined the relationship between mitochondrial function and ASD symptoms. We measured Complex I and IV and citrate synthase activities in 76 children with ASD who were not receiving vitamin supplementation or medication. We also measured language using the Preschool Language Scales or Clinical Evaluation of Language Fundamentals, adaptive behavior using the Vineland Adaptive Behavioral Scale, social function using the Social Responsiveness Scale and behavior using Aberrant Behavior Checklist, Childhood Behavior Checklist and the Ohio Autism Clinical Impression Scale...
August 29, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28852923/total-glycosides-of-paeony-shows-neuroprotective-effects-against-semen-strychni-induced-neurotoxicity-by-recovering-secretion-of-hormones-and-improving-brain-energy-metabolism
#17
Chenzhi Hou, Ruowen Zhang, Kexia Zhang, Xiaohui Chen
In this study, we investigated the protective effect of total glycosides of paeony against Semen Strychni-induced neurotoxicity and discussed some probably mechanisms. Levels of estrone, estradiol, estriol and growth hormone in male rats' serum were determined by ELISA, levels of ATP and substances associated with energy metabolism in rats' brain were determined by HPLC and levels of progesterone was determined by a UPLC-MS/MS method. The results showed that neurotoxicity induced by Semen Strychni could cause a significant decrease (p < 0...
August 29, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28849357/curcumin-supplemented-diets-improve-antioxidant-enzymes-and-alter-acetylcholinesterase-genes-expression-level-in-drosophila-melanogaster-model
#18
Ayodele Jacob Akinyemi, Ganiyu Oboh, Opeyemi Ogunsuyi, Amos Olalekan Abolaji, Adetutu Udofia
Curcumin, a bioactive polyphenolic compound in turmeric (Curcuma longa) rhizomes has been shown to exert anti-aging properties with limited scientific basis. Hence, this study sought to examine the antioxidant and anti-cholinesterase activities of curcumin-supplemented diets as well as their molecular effect on superoxide dismutase (SOD) and acetylcholinesterase (AChE) genes expression level associated with lifespan extension in Drosophila melanogaster model. In this experiment, D. melanogaster (both genders) of 1 to 3 days old were fed diets either containing no curcumin (control) or supplemented with curcumin at 0...
August 28, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28844098/the-toxic-influence-of-dibromoacetic-acid-on-the-hippocampus-and-pre-frontal-cortex-of-rat-involvement-of-neuroinflammation-response-and-oxidative-stress
#19
Wenbo Jiang, Bai Li, Yingying Chen, Shuying Gao
Dibromoacetic acid (DBA) exsits in drinking water as a by-product of disinfection as a result of chlorination or ozonation processes. Hippocampus and pre-frontal cortex are the key structures in memory formation and weanling babies are more sensitive to environmental toxicant than adults, so this study was conducted to evaluate the potential neurotoxicity effects of DBA exposure when administered intragastrically for 4 weeks to weanling Sprague-Dawley rats, at concentration of 0, 20, 50, 125 mg/kg via the neurobehavioral and neurochemical effects...
August 26, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28840430/mevastatin-promotes-neuronal-survival-against-a%C3%AE-induced-neurotoxicity-through-ampk-activation
#20
Edy Kornelius, Hsin-Hua Li, Chiung-Huei Peng, Hui-Wen Hsiao, Yi-Sun Yang, Chien-Ning Huang, Chih-Li Lin
Statins or HMG-CoA reductase inhibitors have been shown to be effective at lowering cholesterol levels, and the application of these molecules has gradually emerged as an attractive therapeutic strategy for neurodegenerative diseases. Epidemiological studies suggest that statin use is associated with a decreased incidence of Alzheimer's disease (AD). Thus, statins may play a beneficial role in reducing amyloid β (Aβ) toxicity, the most relevant pathological feature and pathogenesis of AD. However, the precise mechanisms involved in statin-inhibited Aβ toxicity remain unclear...
August 24, 2017: Metabolic Brain Disease
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