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https://www.readbyqxmd.com/read/28508091/-mr-spectroscopy-in-metabolic-disorders-of-the-brain
#1
REVIEW
U Yilmaz
CLINICAL ISSUE: Metabolic disorders of the brain often present a particular challenge for the neuroradiologist, since the disorders are rare, changes on conventional MR are often non-specific and there are numerous differential diagnoses for the white substance lesions. STANDARD RADIOLOGICAL METHODS: As a complementary method to conventional brain MRI, MR spectroscopy may help to reduce the scope of the differential diagnosis. Entities with specific MR spectroscopy patterns are Canavan disease, maple syrup urine disease, nonketotic hyperglycinemia and creatine deficiency...
May 15, 2017: Der Radiologe
https://www.readbyqxmd.com/read/28492150/selective-screening-for-organic-acidurias-and-amino-acidopathies-in-pakistani-children
#2
Noreen Abbas Sherazi, Aysha Habib Khan, Lena Jafri, Azeema Jamil, Nasir Ali Khan, Bushra Afroze
OBJECTIVE: To determine the frequency of organic acidurais (OA) and amino acidopathies (AA) in selected high-risk patients screened in two years. STUDY DESIGN: Retrospective Observational study. PLACE AND DURATION OF STUDY: The Aga Khan University Hospital (AKUH), Karachi, from January 2013 to December 2014. METHODOLOGY: Patients with OA and AA were included in the study and patients with IMDs other than OA and AA were excluded...
April 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28478731/maple-syrup-urine-disease-tailoring-a-plan-for-pregnancy
#3
James Brown, Michel Tchan, Roshini Nayyar
Maple syrup urine disease (MSUD) is an autosomal metabolic condition that can cause significant morbidity in pregnant women and their infants. Advances in nutritional management mean more mothers with congenital metabolic disorders are becoming pregnant, and presenting challenges in obstetric care. In particular, the increase in protein requirements during pregnancy and metabolic stress of childbirth require careful planning and caloric titration. We report a case of a second time mother with MSUD and demonstrate a treatment scaffold to help achieve successful pregnancies for women with this and similar conditions...
May 7, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28465033/newborn-screening-by-matrix-assisted-laser-desorption-ionization-mass-spectrometry-based-on-parylene-matrix-chip
#4
Jo-Il Kim, Joo-Yoon Noh, Mira Kim, Jong-Min Park, Hyun-Woo Song, Min-Jung Kang, Jae-Chul Pyun
Newborn screening for diagnosis of phenylketonuria, homocystinuria, and maple syrup urine disease have been conducted by analyzing the concentration of target amino acids using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-ToF MS) based on parylene-matrix chip. Parylene-matrix chip was applied to MALDI-ToF MS analysis reducing the matrix peaks significantly at low mass-to-charge ratio range (m/z < 500). Reproducibility of inter-spot and intra-spot analyses of amino acids was less than 10%...
April 29, 2017: Analytical Biochemistry
https://www.readbyqxmd.com/read/28417264/branched-chain-amino-acids-and-brain-metabolism
#5
Justin E Sperringer, Adele Addington, Susan M Hutson
This review aims to provide a historical reference of branched-chain amino acid (BCAA) metabolism and provide a link between peripheral and central nervous system (CNS) metabolism of BCAAs. Leucine, isoleucine, and valine (Leu, Ile, and Val) are unlike most other essential amino acids (AA), being transaminated initially in extrahepatic tissues, and requiring interorgan or intertissue shuttling for complete catabolism. Within the periphery, BCAAs are essential AAs and are required for protein synthesis, and are key nitrogen donors in the form of Glu, Gln, and Ala...
April 18, 2017: Neurochemical Research
https://www.readbyqxmd.com/read/28417071/twenty-novel-mutations-in-bckdha-bckdhb-and-dbt-genes-in-a-cohort-of-52-saudi-arabian-patients-with-maple-syrup-urine-disease
#6
Faiqa Imtiaz, Abeer Al-Mostafa, Rabab Allam, Khushnooda Ramzan, Nada Al-Tassan, Asma I Tahir, Nouf S Al-Numair, Mohamed H Al-Hamed, Zuhair Al-Hassnan, Mohammad Al-Owain, Hamad Al-Zaidan, Mohammad Al-Amoudi, Alya Qari, Ameera Balobaid, Moeenaldeen Al-Sayed
Maple syrup urine disease (MSUD), an autosomal recessive inborn error of metabolism due to defects in the branched-chain α-ketoacid dehydrogenase (BCKD) complex, is commonly observed among other inherited metabolic disorders in the kingdom of Saudi Arabia. This report presents the results of mutation analysis of three of the four genes encoding the BCKD complex in 52 biochemically diagnosed MSUD patients originating from Saudi Arabia. The 25 mutations (20 novel) detected spanned across the entire coding regions of the BCKHDA, BCKDHB and DBT genes...
June 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28324240/neurocognitive-profiles-in-msud-school-age-patients
#7
Juliette Bouchereau, Julie Leduc-Leballeur, Samia Pichard, Apolline Imbard, Jean-François Benoist, Marie-Thérèse Abi Warde, Jean-Baptiste Arnoux, Valérie Barbier, Anaïs Brassier, Pierre Broué, Aline Cano, Brigitte Chabrol, Gilles Damon, Claire Gay, Isabelle Guillain, Florence Habarou, Delphine Lamireau, Chris Ottolenghi, Laetitia Paermentier, Frédérique Sabourdy, Guy Touati, Hélène Ogier de Baulny, Pascale de Lonlay, Manuel Schiff
Maple syrup urine disease (MSUD), an inborn error of amino acids catabolism is characterized by accumulation of branched chain amino acids (BCAAs) leucine, isoleucine, valine and their corresponding alpha-ketoacids. Impact on the cognitive development has been reported historically, with developmental delays of varying degree. Currently, earlier diagnosis and improved management allow a better neurodevelopment, without requirement of special education. However, specific impairments can be observed, and so far, results of detailed neurocognitive assessments are not available...
March 21, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28243803/co-infection-with-coxsackievirus-a5-and-norovirus-gii-4-could-have-been-the-trigger-of-the-first-episode-of-severe-acute-encephalopathy-in-a-six-year-old-child-with-the-intermittent-form-of-maple-syrup-urine-disease-msud
#8
Ákos Boros, Péter Pankovics, Sándor Kőmíves, Zoltán Liptai, Sarolta Dobner, Enikő Ujhelyi, György Várallyay, Petra Zsidegh, Nóra Bolba, Gábor Reuter
In this case study, a co-infection with coxsackievirus A5 (family Picornaviridae) and norovirus GII.4 (family Caliciviridae) was detected by RT-PCR in a faecal sample from a six-year-old girl with symptoms of severe acute encephalopathy subsequently diagnosed as the intermittent form of maple syrup urine disease (MSUD). The two co-infecting viruses, which had been detected previously, appeared to have triggered the underlying metabolic disorder. Here, we describe the genotyping of the viruses, as well as the chronological course, laboratory test results, and clinical presentation of this case, which included recurrent vomiting without diarrhoea, metabolic acidosis, unconsciousness, seizure and circulatory collapse, but with a positive final outcome...
June 2017: Archives of Virology
https://www.readbyqxmd.com/read/28214879/thiamine-deprivation-produces-a-liver-atp-deficit-and-metabolic-and-genomic-effects-in-mice-findings-are-parallel-to-those-of-biotin-deficiency-and-have-implications-for-energy-disorders
#9
Alain de J Hernandez-Vazquez, Josue Andres Garcia-Sanchez, Elizabeth Moreno-Arriola, Ana Salvador-Adriano, Daniel Ortega-Cuellar, Antonio Velazquez-Arellano
Thiamine is one of several essential cofactors for ATP generation. Its deficiency, like in beriberi and in the Wernicke-Korsakoff syndrome, has been studied for many decades. However, its mechanism of action is still not completely understood at the cellular and molecular levels. Since it acts as a coenzyme for dehydrogenases of pyruvate, branched-chain keto acids, and ketoglutarate, its nutritional privation is partly a phenocopy of inborn errors of metabolism, among them maple syrup urine disease. In the present paper, we report metabolic and genomic findings in mice deprived of thiamine...
2016: Journal of Nutrigenetics and Nutrigenomics
https://www.readbyqxmd.com/read/28197878/two-homozygous-mutations-in-the-exon-5-of-bckdhb-gene-that-may-cause-the-classic-form-of-maple-syrup-urine-disease
#10
Ling Su, Zhikun Lu, Fatao Li, Yongxian Shao, Huiying Sheng, Yanna Cai, Li Liu
Maple syrup urine disease (MSUD) is a rare autosomal recessive genetic disorder caused by defects in the catabolism of the branched-chain amino acids (BCAAs). Classic form of MSUD (CMSUD) is caused by mutations in BCKDHA, BCKDHB, DBT genes mostly. In this study, we analyzed the clinical and genetic characteristics of two patients with CMSUD. Two homozygous mutations, c.517G > T (p.Asp173Tyr) and c.503G > A (p.Arg168His), both in the exon 5 of BCKDHB were detected respectively. The novel mutation p...
June 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28196559/the-link-between-childhood-adversity-and-late-life-mental-health-evidence-for-the-influence-of-early-life-experiences-or-illusory-correlations
#11
Tracy D Vannorsdall, Cynthia A Munro
Adverse childhood experiences (ACEs) reflect stressful or traumatic early life events such as abuse, neglect, and significant household challenges. These experiences are increasingly appreciated as factors that exert influence on physical and mental functioning throughout the lifespan. Numerous studies have demonstrated dose-response relationships between the number of ACEs reported and negative health outcomes in adulthood (Anda et al., 2006). At the same time, evidence points to the role of ACEs in the development of heightened biological reactivity to stress that may serve to increase vulnerability to the development of mental and substance use disorders (e...
March 2017: International Psychogeriatrics
https://www.readbyqxmd.com/read/28179391/the-nuclear-cap-binding-complex-mediates-meiotic-silencing-by-unpaired-dna
#12
Logan M Decker, Hua Xiao, Erin C Boone, Michael M Vierling, Benjamin S Shanker, Shanika L Kingston, Shannon F Boone, Jackson B Haynes, Patrick K T Shiu
In the filamentous fungus Neurospora crassa, cross walls between individual cells are normally incomplete, making the entire fungal network vulnerable to attack by viruses and selfish DNAs. Accordingly, several genome surveillance mechanisms are maintained to help the fungus combat these repetitive elements. One of these defense mechanisms is called meiotic silencing by unpaired DNA (MSUD), which identifies and silences unpaired genes during meiosis. Utilizing common RNA interference (RNAi) proteins, such as Dicer and Argonaute, MSUD targets mRNAs homologous to the unpaired sequence to achieve silencing...
April 3, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28089725/high-concentration-of-branched-chain-amino-acids-promotes-oxidative-stress-inflammation-and-migration-of-human-peripheral-blood-mononuclear-cells-via-mtorc1-activation
#13
Olha Zhenyukh, Esther Civantos, Marta Ruiz-Ortega, Maria Soledad Sánchez, Clotilde Vázquez, Concepción Peiró, Jesús Egido, Sebastián Mas
Leucine, isoleucine and valine are essential aminoacids termed branched-chain amino acids (BCAA) due to its aliphatic side-chain. In several pathological and physiological conditions increased BCAA plasma concentrations have been described. Elevated BCAA levels predict insulin resistance development. Moreover, BCAA levels higher than 2mmol/L are neurotoxic by inducing microglial activation in maple syrup urine disease. However, there are no studies about the direct effects of BCAA in circulating cells. We have explored whether BCAA could promote oxidative stress and pro-inflammatory status in peripheral blood mononuclear cells (PBMCs) obtained from healthy donors...
March 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28018909/a-review-of-selected-genes-with-known-effects-on-performance-and-health-of-cattle
#14
REVIEW
Eduardo Casas, Marcus E Kehrli
There are genetic conditions that influence production in dairy and beef cattle. The objective of this review was to describe relevant genetic conditions that have been associated with productivity and health in cattle. Genes or genomic regions that have been identified as a candidate for the condition will be included, and the genetic basis of the condition will be defined. Genes and genetic conditions included in this review are bovine leukocyte adhesion deficiency, deficiency of the uridine monophosphate synthase, bovine chronic interstitial nephritis, horn development, myostatin, complex vertebral malformation, leptin, osteopetrosis, apoptosis peptide activating factor 1, chondrodysplastic dwarfism, caseins, calpastatin, umbilical hernia, lactoglobulin, citrullinemia, cholesterol deficiency, prions, thyroglobulin, diacylglycerol acyltransferase, syndactyly, maple syrup urine disease, slick hair, Factor XI deficiency, and μ-Calpain...
2016: Frontiers in Veterinary Science
https://www.readbyqxmd.com/read/27974115/-maple-syrup-urine-disease-and-gene-mutations-in-twin-neonates
#15
Tao Li, Yu Wang, Cui Li, Wei-Wei Xu, Feng-Hai Niu, Di Zhang
OBJECTIVE: To investigate the clinical features of one pair of twin neonates with maple syrup urine disease (MSUD) in the Chinese Han population and pathogenic mutations in related genes, and to provide guidance for the early diagnosis and treatment of MSUD. METHODS: The clinical and imaging data of the twin neonates were collected. The peripheral blood samples were collected from the twin neonates and their parents to detect the genes related to MSUD (BCKDHA, BCKDHB, DBT, and DLD)...
December 2016: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/27816400/-neonatal-presentation-of-maple-syrup-urine-disease
#16
L Cardoen, M Schiff, J Lambron, A Rega, A-L Virlouvet, V Biran, S Eleni Dit Trolli, M Elmaleh-Bergès, M Alison
No abstract text is available yet for this article.
December 2016: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/27815833/erratum-to-serum-markers-of-neurodegeneration-in-maple-syrup-urine-disease
#17
Giselli Scaini, Tássia Tonon, Carolina F Moura de Souza, Patricia F Schuck, Gustavo C Ferreira, Joao Seda Neto, Tatiana Amorim, Ida Vanessa D Schwartz, Emilio L Streck
No abstract text is available yet for this article.
November 4, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27784639/gas-chromatography-mass-spectrometry-based-urine-metabolome-study-in-children-for-inborn-errors-of-metabolism-an-indian-experience
#18
Mahesh H Hampe, Shrimant N Panaskar, Ashwini A Yadav, Pramod W Ingale
OBJECTIVE: The present study highlights the feasibility of gas chromatography/mass spectrometry (GC/MS)-based analysis for simultaneous detection of >200 marker metabolites in urine found in characteristic pattern in inborn errors of metabolism (IEM) in India. DESIGN AND METHODS: During this retrospective study conducted from July 2013 to January 2016, we collected urine specimens on filter papers from Indian children across the country along with relevant demographic and clinical data...
February 2017: Clinical Biochemistry
https://www.readbyqxmd.com/read/27780491/association-of-adverse-childhood-experiences-with-lifetime-mental-and-substance-use-disorders-among-men-and-women-aged-50-years
#19
Namkee G Choi, Diana M DiNitto, C Nathan Marti, Bryan Y Choi
BACKGROUND: Given growing numbers of older adults with mental and substance use disorders (MSUDs), this study examined the association between ten types of adverse childhood experiences (ACEs) and lifetime MSUDs among those aged 50+. METHODS: Data (N = 14,738 for the 50+ age group) came from the 2012 to 2013 National Epidemiologic Survey on Alcohol and Related Conditions. Using multivariable binary logistic regression analyses, we examined relationships between ten ACEs and six lifetime MSUDs (major depressive disorder (MDD) and anxiety, post-traumatic stress, alcohol use, drug use, and nicotine use disorders)...
October 26, 2016: International Psychogeriatrics
https://www.readbyqxmd.com/read/27761412/plasma-amino-acid-and-urine-organic-acid-profiles-of-filipino-patients-with-maple-syrup-urine-disease-msud-and-correlation-with-their-neurologic-features
#20
Mary Anne D Chiong, Marilyn A Tan, Cynthia P Cordero, Esphie Grace D Fodra, Judy S Manliguis, Cristine P Lopez, Leslie Michelle M Dalmacio
BACKGROUND: Maple syrup urine disease (MSUD) is the most common inborn error of metabolism in the country. The cause of the neuropathology is still not well established although accumulation of branched chain amino acids (BCAA) and alteration in large neutral amino acids (LNAA) as well as energy deprivation are suggested. It is therefore the aim of this study to determine the plasma amino acid and urine organic acid profiles of patients with MSUD and correlate the findings with their neurologic features...
December 2016: Molecular Genetics and Metabolism Reports
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