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Enzyme multisystem

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https://www.readbyqxmd.com/read/29775242/mutations-in-mars-identified-in-a-specific-type-of-pulmonary-alveolar-proteinosis-alter-methionyl-trna-synthetase-activity
#1
Martine Comisso, Alice Hadchouel, Jacques de Blic, Marc Mirande
Biallelic missense mutations in MARS are responsible for rare but severe cases of pulmonary alveolar proteinosis (PAP) prevalent on the island of La Réunion. MARS encodes cytosolic methionyl-tRNA synthetase (MetRS), an essential translation factor. The multisystemic effects observed in patients with this form of PAP is consistent with a loss-of-function defect in an ubiquitously expressed enzyme. The pathophysiological mechanisms involved in MARS related PAP are currently unknown. In this work, we analyzed the effect of the PAP related mutations in MARS on the thermal stability and on the catalytic parameters of the MetRS mutants, relative to wild-type...
May 18, 2018: FEBS Journal
https://www.readbyqxmd.com/read/29770213/variable-phenotypic-presentations-of-renal-involvement-in-fabry-disease-a-case-series
#2
Sarah McCloskey, Paul Brennan, John A Sayer
Fabry disease is an X-linked genetic deficiency in the alpha-galactosidase enzyme resulting in intracellular accumulation of glycosphingolipids and multisystem organ dysfunction. Typically 50% of males and 20% of affected females have renal involvement, ranging from proteinuria or reduced renal function, renal parapelvic cysts and progressive renal disease ultimately requiring transplantation or dialysis. The phenotypic presentation of Fabry disease is incredibly varied and will even vary between family members with the same confirmed genetic mutation...
2018: F1000Research
https://www.readbyqxmd.com/read/29741690/severe-multisystem-involvement-of-chronic-granulomatous-disease-in-a-pediatric-patient
#3
Zuhal Bayramoglu, Ibrahim Adaletli, Emine Caliskan, Manolya Acar, Selda Hancerli Torun, Ayper Somer
Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder identified by recurrent pyogenic and fungal infections infections secondary to defective nicotinamide adenine dinucleotide phosphate oxidase enzyme. In the present study, we demonstrated a case with a history of multiple segmental lung resections because of invasive bronchopulmonary aspergillosis, multifocal hepatic and splenic granulomas, bilateral adnexal calcific foci presumed to be related with old granulomatous infection and finally gastric outlet obstruction secondary to the involvement of the stomach wall thickening with granulomatous tissue...
May 7, 2018: Journal of Tropical Pediatrics
https://www.readbyqxmd.com/read/29726829/childhood-sarcoidosis-presenting-as-recurrent-facial-palsy
#4
Gouri Rao Passi, Kriti Arora, Narendra Gokhale
BACKGROUND: Recurrent facial palsy in a patient merits investigation for underlying etiology. CASE CHARACTERISTICS: 8-year-old boy with erythematous itchy skin lesion and recurrent facial palsy. OBSERVATION: He had a past history of aseptic meningitis and nephrocalcinosis. Raised angiotensin converting enzyme levels, interstitial lung disease on CT chest, and non caseating granulomas on skin biopsy clinched the diagnosis of sarcoidosis. MESSAGE: Multisystem involvement and recurrent lower motor facial nerve palsy is a clinical clue for sarcoidosis...
April 15, 2018: Indian Pediatrics
https://www.readbyqxmd.com/read/29720683/characterisation-of-lamp2-deficient-rats-for-potential-new-animal-model-of-danon-disease
#5
Shuoyi Ma, Miao Zhang, Shuai Zhang, Jing Wang, Xia Zhou, Guanya Guo, Lu Wang, Min Wang, Zhengwu Peng, Changcun Guo, Xiaohong Zheng, Xinmin Zhou, Jingbo Wang, Ying Han
Danon disease (DD) is caused by the absence or malfunction of lysosomal-associated membrane protein 2 (LAMP2). Although Lamp2-deficient mice and DD patients have similar characteristics, these mice have clear limitations and are clinically inconsistent. The aim of our paper is to outline the characteristics of Lamp2-deficient rats and to contrast this model with currently available DD mouse models. The baseline levels of some serum enzymes were elevated in Lamp2y/- rats along with hypercholesterolemia and hyperglycaemia at 8 weeks...
May 2, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29618310/genetics-and-gene-therapy-in-hunter-disease
#6
Sestito Simona, Francesca Falvo, Rosalbina Apa, Licia Pensabene, Giuseppe Bonapace, Maria Teresa Moricca, Daniela Concolino
Mucopolysaccharidosis type II or Hunter syndrome is a rare X-linked lysosomal storage disorder due to a mutation in the gene encoding the lysosomal enzyme iduronate-2-sulfatase. The consequent enzyme deficiency leads to a progressive, multisystem accumulation of glycosaminoglycans throughout the body, which is the cause of the clinical manifestations involving also Central Nervous System for patients with the severe form of disease. The limits of the current available therapies for Hunter syndrome, hematopoietic stem cell transplantation and recombinant enzyme replacement therapy, mainly regarding brain achievement, encouraged several studies which recognized gene therapy as a potential therapeutic option for this condition...
April 4, 2018: Current Gene Therapy
https://www.readbyqxmd.com/read/29618309/genetics-and-gene-therapy-of-anderson-fabry-disease
#7
Irene Simonetta, Antonino Tuttolomondo, Tiziana Di Chiara, Salvatore Miceli
Fabry's disease is a genetic disorder of X-linked inheritance caused by mutations in the alpha galactosidase A gene resulting in deficiency of this lysosomal enzyme. The progressive accumulation of glycosphingolipids, caused by the inadequate enzymatic activity, is responsible of organ dysfunction and thus of clinical manifestations. In presence of a high clinical suspicion, a careful physical examination and specific laboratory tests are required, finally diagnosis of Fabry's disease is confirmed by demonstration of absence or reduced alpha galactosidase A enzyme activity in hemizygous men and gene typing in heterozygous females; in fact the performance of enzymatic activity assay alone in women is inconclusive...
April 4, 2018: Current Gene Therapy
https://www.readbyqxmd.com/read/29573043/compound-heterozygosity-for-loss-of-function-farsb-variants-in-a-patient-with-classic-features-of-recessive-aminoacyl-trna-synthetase-related-disease
#8
Anthony Antonellis, Stephanie N Oprescu, Laurie B Griffin, Amer Heider, Andrea Amalfitano, Jeffrey W Innis
Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed enzymes that ligate amino acids onto tRNA molecules. Genes encoding ARSs have been implicated in phenotypically diverse dominant and recessive human diseases. The charging of tRNAPHE with phenylalanine is performed by a tetrameric enzyme that contains two alpha (FARSA) and two beta (FARSB) subunits. To date, mutations in the genes encoding these subunits (FARSA and FARSB) have not been implicated in any human disease. Here, we describe a patient with a severe, lethal, multisystem, developmental phenotype who was compound heterozygous for FARSB variants: p...
March 23, 2018: Human Mutation
https://www.readbyqxmd.com/read/29526614/safety-immunogenicity-and-clinical-outcomes-in-patients-with-morquio-a-syndrome-participating-in-2-sequential-open-label-studies-of-elosulfase-alfa-enzyme-replacement-therapy-mor-002-mor-100-representing-5-years-of-treatment
#9
Christian Hendriksz, Saikat Santra, Simon A Jones, Tarekegn Geberhiwot, Lynne Jesaitis, Brian Long, Yulan Qi, Sara M Hawley, Celeste Decker
Elosulfase alfa is an enzyme replacement therapy for Morquio A syndrome (mucopolysaccharidosis IVA), a multisystemic progressive lysosomal storage disorder. This report includes the primary treatment outcomes and immunogenicity profile of elosulfase alfa in patients with Morquio A syndrome from 2 sequential studies, MOR-002 (ClinicalTrials.govNCT00884949) and MOR-100 (NCT01242111), representing >5 years of clinical study data. MOR-002 was an open-label, single-arm phase 1/2 study that evaluated the pharmacokinetics, safety, immunogenicity, and preliminary efficacy of 3 sequential doses of elosulfase alfa (0...
April 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29479156/seroprevalence-of-selected-viral-pathogens-in-pigs-reared-in-organized-farms-of-meghalaya-from-2014-to-16
#10
Priyanka Mukherjee, Amarjit Karam, Uttam Singh, Amit Kumar Chakraborty, Surmani Huidrom, Arnab Sen, Indu Sharma
Aim: A pilot study was carried out to find out the seroprevalence of Porcine circovirus 2 (PCV2), classical swine fever virus (CSFV), and Porcine respiratory and reproductive syndrome virus (PRRS) in pig population of Meghalaya. Materials and Methods: Serum samples were collected from piglets of 40-45 days age group, growers, and sows reared under organized and unorganized management in 11 districts of Meghalaya situated in the Khasi, Jaintia, and Garo hills divisions in the time period of 2014-2016 from apparently healthy and suspected pigs...
January 2018: Veterinary World
https://www.readbyqxmd.com/read/29473937/large-deletion-in-pigl-a-common-mutational-mechanism-in-chime-syndrome
#11
José Rm Ceroni, Guilherme L Yamamoto, Rachel S Honjo, Chong A Kim, Maria R Passos-Bueno, Débora R Bertola
CHIME syndrome is an extremely rare autosomal recessive multisystemic disorder caused by mutations in PIGL. PIGL is an endoplasmic reticulum localized enzyme that catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis, which plays a role in the anchorage of cell-surface proteins including receptors, enzymes, and adhesion molecules. Germline mutations in other members of GPI and Post GPI Attachment to Proteins (PGAP) family genes have been described and constitute a group of diseases within the congenital disorders of glycosylation...
January 2018: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/29454376/seroprevalence-of-neospora-caninum-specific-antibodies-in-german-breeding-bitches
#12
Rodolfo Villagra-Blanco, Lora Angelova, Theresa Conze, Gereon Schares, Andrea Bärwald, Anja Taubert, Carlos Hermosilla, Axel Wehrend
BACKGROUND: Neospora caninum is an intracellular obligate apicomplexan parasite responsible for multisystemic lesions in dogs. Being definitive hosts and reservoirs, dogs excrete environmentally resistant oocysts. Breeding bitches represent a susceptible dog group and infected bitches may spread this parasite through transplacental transmission. RESULTS: A total of 218 serum samples of German breeding bitches were collected to determine the presence of N. caninum...
February 17, 2018: Parasites & Vectors
https://www.readbyqxmd.com/read/29397290/complex-care-of-individuals-with-multiple-sulfatase-deficiency-clinical-cases-and-consensus-statement
#13
Rebecca Ahrens-Nicklas, Lars Schlotawa, Andrea Ballabio, Nicola Brunetti-Pierri, Mauricio De Castro, Thomas Dierks, Florian Eichler, Can Ficicioglu, Alan Finglas, Jutta Gaertner, Brian Kirmse, Joerg Klepper, Marcus Lee, Amber Olsen, Giancarlo Parenti, Arastoo Vossough, Adeline Vanderver, Laura A Adang
Multiple sulfatase deficiency (MSD) is an ultra-rare neurodegenerative disorder that results in defective sulfatase post-translational modification. Sulfatases in the body are activated by a unique protein, formylglycine-generating enzyme (FGE) that is encoded by SUMF1. When FGE is absent or insufficient, all 17 known human sulfatases are affected, including the enzymes associated with metachromatic leukodystrophy (MLD), several mucopolysaccharidoses (MPS II, IIIA, IIID, IVA, VI), chondrodysplasia punctata, and X-linked ichthyosis...
March 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29344035/hypercalcaemic-pancreatitis-adrenal-insufficiency-autoimmune-thyroiditis-and-diabetes-mellitus-in-a-girl-with-probable-sarcoidosis
#14
Devi Dayal, Olivia Pepper, Renuka Ramakrishnan, Eileen Baildam, Poonam Dharmaraj, Gavin Cleary, Liza McCann, Clare Pain, Senthil Senniappan
Introduction: Sarcoidosis is a multisystemic granulomatous disease with diverse and often non-specific symptoms during childhood. The clinical manifestations sometimes include endocrinopathies related to sarcoid infiltration of various endocrine organs, but more commonly due to the associated autoimmune endocrine disorders. There are only a few reports of multiple autoimmune and non-autoimmune endocrine problems occurring simultaneously in patients with sarcoidosis. We report a girl with probable sarcoidosis who also had Hashimoto's thyroiditis, Type 1 diabetes (T1D) and secondary adrenal insufficiency...
October 2017: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29341480/cutis-laxa-and-excessive-bone-growth-due-to-de-novo-mutations-in-ptdss1
#15
Juliette Piard, James Lespinasse, Marketa Vlckova, Martin A Mensah, Sorin Iurian, Martina Simandlova, Marcela Malikova, Oliver Bartsch, Massimiliano Rossi, Marion Lenoir, Frédérique Nugues, Stefan Mundlos, Uwe Kornak, Philip Stanier, Sérgio B Sousa, Lionel Van Maldergem
The cutis laxa syndromes are multisystem disorders that share loose redundant inelastic and wrinkled skin as a common hallmark clinical feature. The underlying molecular defects are heterogeneous and 13 different genes have been involved until now, all of them being implicated in elastic fiber assembly. We provide here molecular and clinical characterization of three unrelated patients with a very rare phenotype associating cutis laxa, facial dysmorphism, severe growth retardation, hyperostotic skeletal dysplasia, and intellectual disability...
January 17, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29296871/quality-of-life-of-hurler-syndrome-patients-after-successful-hematopoietic-stem-cell-transplantation
#16
Mieke Aldenhoven, Brigitte T A van den Broek, Robert F Wynn, Anne O'Meara, Paul Veys, Attilio Rovelli, Simon A Jones, Rossella Parini, Peter M van Hasselt, Marleen Renard, Victoria Bordon, Tom J de Koning, Jaap Jan Boelens
Hurler syndrome (HS) is a lysosomal storage disease characterized by multisystem morbidity and death in early childhood. Hematopoietic stem cell transplantation (HSCT) results in long-term survival, although with significant residual disease burden. How this residual disease affects the health-related quality of life is unknown. Therefore, we conducted a multicenter cohort study on functional and psychosocial health and compared the outcomes to normative data using the Child Health Questionnaire and Pediatric Outcomes Data Collection Instrument...
November 14, 2017: Blood Advances
https://www.readbyqxmd.com/read/29296619/4-hydroxybenzoic-acid-restores-coq-10-biosynthesis-in-human-coq2-deficiency
#17
Diran Herebian, Annette Seibt, Sander H J Smits, Richard J Rodenburg, Ertan Mayatepek, Felix Distelmaier
The clinical phenotypes of human CoQ10 -deficiency caused by COQ2 mutations range from fatal neonatal disease to adult-onset multisystem atrophy. So far, treatment options for these diseases are unsatisfactory. Here, we demonstrate that supplementation of 4-hydroxybenzoic acid (4-HBA) fully restores endogenous CoQ10 -biosynthesis in COQ2-deficient cell lines. This was accompanied by increased protein expression of CoQ10 -biosynthesis-enzymes as well as a rescue of cell viability during stress conditions. In silico analysis suggested a ligand transportation path for 4-HBA through the COQ2 protein towards the mitochondrial matrix side...
December 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29181841/epidural-therapy-for-the-treatment-of-severe-pre-eclampsia-in-non-labouring-women
#18
REVIEW
Amita Ray, Sujoy Ray
BACKGROUND: Pre-eclampsia is a pregnancy-specific multi-organ disorder, which is characterised by hypertension and multisystem organ involvement and which has significant maternal and fetal morbidity and mortality. Failure of the placental vascular remodelling and reduced uteroplacental flow form the etiopathological basis of pre-eclampsia. There are several established therapies for pre-eclampsia including antihypertensives and anticonvulsants. Most of these therapies aim at controlling the blood pressure or preventing complications of elevated blood pressure, or both...
November 28, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29166883/the-humanistic-burden-of-pompe-disease-are-there-still-unmet-needs-a-systematic-review
#19
Benedikt Schoser, Deborah A Bilder, David Dimmock, Digant Gupta, Emma S James, Suyash Prasad
BACKGROUND: Humanistic burden considers the impact of an illness on a patient's health-related quality of life (HRQoL), activities of daily living (ADL), caregiver health, and caregiver QoL. Humanistic burden also considers treatment satisfaction and adherence to treatment regimens. Pompe disease is an autosomal recessive, progressive, multisystemic neuromuscular disease. Approval of enzyme-replacement therapy (ERT) markedly improved prognosis for patients, but considerable morbidity and a substantial humanistic burden remain...
November 22, 2017: BMC Neurology
https://www.readbyqxmd.com/read/29120660/-adenosine-a-mediator-with-multisystemic-effects-or-a-hormone
#20
Zora Lazúrová, Peter Mitro
Adenosine is a nucleoside regulating many physiological and pathological processes in human organism. It is produced by almost all cells and is metabolised by adenosinedeaminase enzyme. Effect of adenosine is mediated by three types of adenosine receptors. Adenosinergic system significantly influences function of cardiovascular system, furthemore it plays a key role in sleep homeostasis, in regulation of bone metabolism and activation of immune system. Adenosine mediates effect of various hormones, but also adenosine itself has its own autocrine, paracrine and systemic effects...
December 0: Vnitr̆ní Lékar̆ství
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