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Laura García-Carmona, Daniel Rojas, María Cristina González, Alberto Escarpa
This work describes for the first time the coupling of microfluidic chips (MC) to electrosynthetized silver metallic oxide clusters (AgMOCs). As an early demonstration of this novel approach, the ultrafast detection of galactose in galactosemic newborns' urine samples is proposed. AgMOCs were in situ electrosynthetized on integrated microchip platinum electrodes using a double pulse technique and characterized in full using scanning electronic microscopy (SEM), energy dispersive X-ray spectroscopy (EDX), X-ray photoelectron spectroscopy (XPS) and electrochemical techniques revealing the presence of silver oxides and electrocatalysis towards galactose as a galactosemia biomarker...
October 17, 2016: Analyst
Jennifer M I Daenzer, Patricia P Jumbo-Lucioni, Marquise L Hopson, Kerry R Garza, Emily L Ryan, Judith L Fridovich-Keil
Classic galactosemia (CG) is a potentially lethal inborn error of metabolism that results from profound loss of galactose-1-phosphate uridylyltransferase (GALT), the second enzyme in the Leloir pathway of galactose metabolism. Neonatal detection and dietary restriction of galactose minimize or resolve the acute sequelae of CG, but fail to prevent the long-term complications experienced by a majority of patients. One of the substrates of GALT, galactose-1-phosphate (Gal-1P), accumulates to high levels in affected infants, especially following milk exposure, and has been proposed as the key mediator of acute and long-term pathophysiology in CG...
August 24, 2016: Disease Models & Mechanisms
Inge Timmers, Lisanne D van der Korput, Bernadette M Jansma, M Estela Rubio-Gozalbo
Brain impairments have been observed in patients with classic galactosemia, an inherited metabolic disorder resulting in a particular neuro-cognitive profile. Neuroimaging studies showed abnormalities such as diffuse white mater (WM) abnormalities and grey matter (GM) atrophy. Our current study analysed grey matter density using voxel-based morphometry (VBM) and compared the brains of eight adolescent patients with classic galactosemia with eight healthy gender- and aged-matched controls. GM density differences were found in several regions...
October 1, 2016: Brain Research
Patricia P Jumbo-Lucioni, William M Parkinson, Danielle L Kopke, Kendal Broadie
The multiple galactosemia disease states manifest long-term neurological symptoms. Galactosemia I results from loss of galactose-1-phosphate uridyltransferase (GALT), which converts galactose-1-phosphate + UDP-glucose to glucose-1-phosphate + UDP-galactose. Galactosemia II results from loss of galactokinase (GALK), phosphorylating galactose to galactose-1-phosphate. Galactosemia III results from the loss of UDP-galactose 4'-epimerase (GALE), which interconverts UDP-galactose and UDP-glucose, as well as UDP-N-acetylgalactosamine and UDP-N-acetylglucosamine...
July 27, 2016: Human Molecular Genetics
Sara Nóbrega, Isabelle Scheers, Francoise Smets, Massimiliano Paganelli, Christine Sempoux, Xavier Stephenne, Etienne M Sokal
No abstract text is available yet for this article.
July 11, 2016: Journal of Pediatric Gastroenterology and Nutrition
Seema Alam, Bikrant Bihari Lal
CONTEXT: Suspecting metabolic liver disease in an infant or young child with acute liver failure, and a protocol-based workup for diagnosis is the need of the hour. EVIDENCE ACQUISITION: Data over the last 15 years was searched through Pubmed using the keywords Metabolic liver disease and Acute liver failure with emphasis on Indian perspective. Those published in English language where full text was retrievable were included for this review. RESULTS: Metabolic liver diseases account for 13-43% cases of acute liver failure in infants and young children...
August 8, 2016: Indian Pediatrics
Márcia B Castro, Bruna K Ferreira, José Henrique Cararo, Adália E Chipindo, Marina L Magenis, Monique Michels, Lucinéia G Danielski, Marcos R de Oliveira, Gustavo C Ferreira, Emilio L Streck, Fabricia Petronilho, Patrícia F Schuck
Galactosemia is a disorder of galactose metabolism, leading to the accumulation of this carbohydrate. Galactosemic patients present brain and liver damage. For evaluated oxidative stress, 30-day-old males Wistar rats were divided into two groups: galactose group, that received a single injection of this carbohydrate (5 μmol/g), and control group, that received saline 0.9 % in the same conditions. One, twelve or twenty-four hours after the administration, animals were euthanized and cerebral cortex, cerebellum, and liver were isolated...
July 7, 2016: Metabolic Brain Disease
Kelly A Shaw, Jennifer G Mulle, Michael P Epstein, Judith L Fridovich-Keil
Classic galactosemia (CG) is an autosomal recessive disorder of galactose metabolism that affects approximately 1/50,000 live births in the USA. Following exposure to milk, which contains large quantities of galactose, affected infants may become seriously ill. Early identification by newborn screening with immediate dietary galactose restriction minimizes or prevents the potentially lethal acute symptoms of CG. However, more than half of individuals with CG still experience long-term complications including cognitive disability, behavioral problems, and speech impairment...
July 1, 2016: JIMD Reports
Huma Arshad Cheema, Hassan Suleman Malik, Arit Parkash, Zafar Fayyaz
OBJECTIVE: To determine the frequency, presentation and outcome of various inherited metabolic diseases in children presenting in a tertiary care hospital, Lahore, Pakistan. STUDY DESIGN: An observational study. PLACE AND DURATION OF STUDY: Gastroenterology, Hepatology and Nutrition Department of The Children Hospital and Institute of Child Health, Lahore, from January 2011 to October 2014. METHODOLOGY: All children aged < 14 years with high suspicion of a metabolic disorder were inducted...
June 2016: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
André Felipe Rodrigues, Helena Biasibetti, Bruna Stela Zanotto, Eduardo Farias Sanches, Felipe Schmitz, Vinícius Tejada Nunes, Paula Pierozan, Vanusa Manfredini, Débora Delwing Dal Magro, Carlos Alexandre Netto, Angela T S Wyse
Classical galactosemia is an inborn error of carbohydrate metabolism in which patients accumulate high concentration of galactose in the brain. The most common treatment is a galactose-restricted diet. However, even treated patients develop several complications. One of the most common symptoms is motor coordination impairment, including affected gait, balance, and speech, as well as tremor and ataxia. In the present study, we investigated the effects of intracerebroventricular galactose administration on motor coordination, as well as on histological and biochemical parameters in cerebellum of adult rats...
June 20, 2016: Molecular Neurobiology
Alekhya Narravula, Kathryn B Garber, S Hussain Askree, Madhuri Hegde, Patricia L Hall
PURPOSE: As exome and genome sequencing using high-throughput sequencing technologies move rapidly into the diagnostic process, laboratories and clinicians need to develop a strategy for dealing with uncertain findings. A commitment must be made to minimize these findings, and all parties may need to make adjustments to their processes. The information required to reclassify these variants is often available but not communicated to all relevant parties. METHODS: To illustrate these issues, we focused on three well-characterized monogenic, metabolic disorders included in newborn screens: classic galactosemia, caused by GALT variants; phenylketonuria, caused by PAH variants; and medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, caused by ACADM variants...
June 16, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
A V Degtyareva, S V Mikhailova, E Y Zakharova, E L Tumanova, A A Puchkova
BACKGROUND: Niemann-Pick disease type C is a rare metabolic disease characterized by progressive neurological deterioration with childhood onset, and often results in premature mortality. Niemann-Pick disease type C has an extremely heterogeneous clinical presentation with a wide range of visceral and neurological signs and symptoms that are not specific to the disease, and which progress over varied periods of time. The incidence and epidemiology of Niemann-Pick disease type C in Russia have not been characterized...
2016: Journal of Medical Case Reports
Gursev S Dhaunsi, Mazen Al-Essa
BACKGROUND: Galactosemia is a severe metabolic disorder known to cause hepatosplenomegaly, jaundice and cataracts in neonates, and many patients develop later complications such as mental retardation, disorders of motor function or speech, and hypergonadotrophic hypogonadism. The pathogenetic mechanisms of classical galactosemia are unclear; however, nitric oxide (NO) has been suggested to play a role. OBJECTIVES: Insulin-like growth factor-1 (IGF-1) is important for the growth and development of children, and the aim of this study was to examine the association of NO production with IGF-1 gene expression under galactosemic conditions...
2016: Neonatology
E A Kemper, A Boelen, A M Bosch, M van Veen-Sijne, C N van Rijswijk, M J Bouva, R Fingerhut, P C J I Schielen
Newborn screening for classical galactosemia in the Netherlands is performed by five laboratories and is based on the measurement of galactose 1-phosphate-uridyltransferase (GALT) activity and total galactose (TGAL) in heel prick blood spots. Unexpected problems with the GALT assay posed a challenge to switch to a new assay. The aim of this study was to make an analytical and clinical evaluation of GALT assays to replace the current assay and to establish new cut-off values (COVs).First, the manual assay from PerkinElmer (NG-1100) and the GSP assay were compared by analyzing 626 anonymous heel prick samples in parallel...
May 21, 2016: JIMD Reports
Daniel F Garcia, José S Camelo, Greice A Molfetta, Marlene Turcato, Carolina F M Souza, Gilda Porta, Carlos E Steiner, Wilson A Silva
BACKGROUND: Classical Galactosemia (CG) is an inborn error of galactose metabolism caused by the deficiency of the galactose-1-phosphate uridyltransferase enzyme. It is transmitted as an autosomal recessive disease and is typically characterized by neonatal galactose intolerance, with complications ranging from neonatal jaundice and liver failure to late complications, such as motor and reproductive dysfunctions. Galactosemia is also heterogeneous from a molecular standpoint, with hundreds of different mutations described in the GALT gene, some of them specific to certain populations, reflecting consequence of founder effect...
2016: BMC Medical Genetics
Simon Staubach, Murat Pekmez, Franz-Georg Hanisch
Classical galactosemia is caused by a nearly complete deficiency of galactose-1-phosphate uridyltransferase (GALT; EC 2.7.712), resulting in a severely impaired galactose metabolism with galactose-1-phosphate and galactitol accumulation. Even on a galactose-restricted diet, patients develop serious long-term complications of the central nervous system and ovaries that may result from chronic cell-toxic effects exerted by endogenous galactose. To address the question of whether disease-associated cellular perturbations could affect the kidney function of the patients, we performed differential proteomics of detergent-resistant membranes from urinary exovesicles...
June 3, 2016: Journal of Proteome Research
Thomas J McCorvie, Jolanta Kopec, Angel L Pey, Fiona Fitzpatrick, Dipali Patel, Rod Chalk, Leela Shrestha, Wyatt W Yue
Classic galactosemia is a potentially lethal disease caused by the dysfunction of galactose 1-phosphate uridylyltransferase (GALT). Over 300 disease-associated GALT mutations have been reported, with the majority being missense changes, although a better understanding of their underlying molecular effects has been hindered by the lack of structural information for the human enzyme. Here, we present the 1.9 Å resolution crystal structure of human GALT (hGALT) ternary complex, revealing a homodimer arrangement that contains a covalent uridylylated intermediate and glucose-1-phosphate in the active site, as well as a structural zinc-binding site, per monomer...
March 22, 2016: Human Molecular Genetics
André Felipe Rodrigues, Helena Biasibetti, Bruna Stela Zanotto, Eduardo Farias Sanches, Paula Pierozan, Felipe Schmitz, Mariana Migliorini Parisi, Florencia Barbé-Tuana, Carlos Alexandre Netto, Angela T S Wyse
Tissue accumulation of galactose is a hallmark in classical galactosemia. Cognitive deficit is a symptom of this disease which is poorly understood. The aim of this study was to investigate the effects of intracerebroventricular administration of galactose on memory (inhibitory avoidance and novel object recognition tasks) of adult rats. We also investigated the effects of galactose on acetylcholinesterase (AChE) activity, immunocontent and gene expression in hippocampus and cerebral cortex. Wistar rats received a single injection of galactose (4mM) or saline (control)...
May 2016: International Journal of Developmental Neuroscience
Doua AlSaad, Samah ElSalem, Palli Valapila Abdulrouf, Binny Thomas, Tayseer Alsaad, Afif Ahmed, Moza AlHail
BACKGROUND: Breastfeeding is considered as gold standard for infant nutrition and should be interrupted only when a compelling indication exists. Certain medical conditions such as abortion, stillbirth, HIV infection, or infant galactosemia and certain medications such as chemotherapy necessitate lactation inhibition to protect the health of mother and infant. Drug use evaluation (DUE) studies are done to explore the current practice in a setting and help to identify areas in which further information and education may be needed by clinicians...
2016: Therapeutics and Clinical Risk Management
Moinak Sen Sarma, Anshu Srivastava, Surender Kumar Yachha, Ujjal Poddar, Amrita Mathias
OBJECTIVE: To analyze the presentation and predictors of outcome of children with galactosemia. METHODS: Analysis of clinical, laboratory, microbiological profile and outcome of patients fulfilling the diagnostic criteria: i) clinical setting; ii) reduced erythrocyte Gal-1-PUT enzyme activity; and iii) unequivocal response to lactose-free diet. RESULTS: 24 patients; median age of symptom onset and diagnosis: 10 (3-75) d and 55 (15-455) days, respectively...
January 2016: Indian Pediatrics
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