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https://www.readbyqxmd.com/read/27911282/role-of-rehabilitation-in-hurler-s-syndrome
#1
Sudhir Ramkishore Mishra, Mona Shastri, Jaishree Ramesh
Hurler syndrome is an inherited autosomal recessive disorder of lysosomal accumulation of un-degraded glucosaminoglycan secondary to deficiency of a-L-Iduronidase enzyme. It is most severe form of Mucopolysaccharidosis with incidence of 1:100 000. It has multisystemic involvement leading to multiple deformity, disability and death within 10th years of life. A 2 year old boy presented with umbilical hernia, gross developmental delay and a progressive spinal deformity. On detailed clinical, radiological and laboratory investigation he was diagnosed as Hurler's syndrome...
November 25, 2016: Journal of Back and Musculoskeletal Rehabilitation
https://www.readbyqxmd.com/read/27881386/ppar%C3%AE-augments-heart-function-and-cardiac-fatty-acid-oxidation-in-early-experimental-polymicrobial-sepsis
#2
Stephen Wade Standage, Brock G Bennion, Taft Olpin Knowles, Dolena R Ledee, Michael A Portman, John K McGuire, W Conrad Liles, Aaron K Olson
Children with sepsis and multisystem organ failure have downregulated leukocyte gene expression of PPARα, a nuclear hormone receptor transcription factor that regulates inflammation and lipid metabolism. Mouse models of sepsis have likewise demonstrated that the absence of PPARα is associated with decreased survival and organ injury, specifically of the heart. Using a clinically relevant mouse model of early sepsis, we found that heart function increases in wild type (WT) mice over the first 24 hours of sepsis, but that mice lacking PPARα (Ppara(-/-)) cannot sustain the elevated heart function necessary to compensate for sepsis pathophysiology...
November 23, 2016: American Journal of Physiology. Heart and Circulatory Physiology
https://www.readbyqxmd.com/read/27861345/vitamin-d-receptor-gene-bsmi-polymorphisms-in-egyptian-children-and-adolescents-with-systemic-lupus-erythematosus-a-case-control-study
#3
Seham F Azab, Yasser F Ali, Mohsen A A Farghaly, Mohammed E Hamed, Mayy A N Allah, Ahmed A Emam, Nasser I Abdelsalam, Mustafa I A Hashem, Heba H Gawish, Rehab M Nabil, Lamiaa M Kamel, Dalia S Fahmy, Salah F Alsayed, Nashwa M Al Azizi, Ghada M Al-Akad, Maha A Noah, Hind M Abdelrahman, Ahmed R Ahmed, Eman A Bendary
Systemic lupus erythematosus (SLE) is a multisystemic autoimmune disease. The vitamin D receptor (VDR) gene is a candidate gene for susceptibility to autoimmune disorders. To date, only a few studies concerned the association of the VDR gene polymorphisms with childhood-onset SLE.In this study, we aimed to investigate the BsmI polymorphisms in the VDR gene, for the first time in Egyptian children and adolescents with SLE, to determine whether this polymorphism could be a marker of susceptibility to or severity of SLE and we also measured the serum level of 25-hydroxyvitamin D (25[OH] D) to assess its relation to such polymorphism...
November 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27857755/can-long-term-thiamine-treatment-improve-the-clinical-outcomes-of-myotonic-dystrophy-type-1
#4
Antonio Costantini, Erika Trevi, Maria Immacolata Pala, Roberto Fancellu
Myotonic dystrophy type 1, also known as Steinert's disease, is an autosomal dominant disorder with multisystemic clinical features affecting the skeletal and cardiac muscles, the eyes, and the endocrine system. Thiamine (vitamin B1) is a cofactor of fundamental enzymes involved in the energetic cell metabolism; recent studies described its role in oxidative stress, protein processing, peroxisomal function, and gene expression. Thiamine deficiency is critical mainly in the central and peripheral nervous system, as well as in the muscular cells...
September 2016: Neural Regeneration Research
https://www.readbyqxmd.com/read/27814620/mucopolysaccharidosis-vi-pathophysiology-diagnosis-and-treatment
#5
Paul Harmatz, Renee Shediac
Mucopolysaccharidosis VI (MPS VI), or Maroteaux-Lamy syndrome, is an autosomal recessive lysosomal storage disorder caused by deficient activity of the enzyme arylsulfatase B (ASB). Progressive accumulation of glycosaminoglycans (GAGs) in organs and tissues leads to the development of multisystem clinical manifestations. The presentation of MPS VI is genotypically and phenotypically diverse, with a large number of potential disease-causing mutations and a phenotypic spectrum ranging from very slowly to very rapidly progressing disease...
January 1, 2017: Frontiers in Bioscience (Landmark Edition)
https://www.readbyqxmd.com/read/27774737/pharmacological-chaperoning-a-potential-treatment-for-pmm2-cdg
#6
Patricia Yuste-Checa, Sandra Brasil, Alejandra Gámez, Jarl Underhaug, Lourdes R Desviat, Magdalena Ugarte, Celia Pérez-Cerdá, Aurora Martinez, Belén Pérez
The congenital disorder of glycosylation (CDG) due to phosphomannomutase 2 deficiency (PMM2-CDG), the most common N-glycosylation disorder, is a multisystem disease for which no effective treatment is available. The recent functional characterization of disease-causing mutations described in patients with PMM2-CDG led to the idea of a therapeutic strategy involving pharmacological chaperones (PC) to rescue PMM2 loss-of-function mutations. The present work describes the high-throughput screening, by differential scanning fluorimetry, of 10,000 low-molecular-weight compounds from a commercial library, to search for possible PCs for the enzyme PMM2...
October 24, 2016: Human Mutation
https://www.readbyqxmd.com/read/27759031/whole-exome-sequencing-identifies-novel-variants-in-pnpt1-causing-oxidative-phosphorylation-defects-and-severe-multisystem-disease
#7
Ahmad Alodaib, Nara Sobreira, Wendy A Gold, Lisa G Riley, Nicole J Van Bergen, Meredith J Wilson, Bruce Bennetts, David R Thorburn, Corinne Boehm, John Christodoulou
Recent advances in next-generation sequencing strategies have led to the discovery of many novel disease genes. We describe here a non-consanguineous family with two affected boys presenting with early onset of severe axonal neuropathy, optic atrophy, intellectual disability, auditory neuropathy and chronic respiratory and gut disturbances. Whole-exome sequencing (WES) was performed on all family members and we identified compound heterozygous variants (c.[760C>A];[1528G>C];p.[(Gln254Lys);(Ala510Pro)] in the polyribonucleotide nucleotidyltransferase 1 (PNPT1) gene in both affected individuals...
October 19, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27748327/pediatric-gastrointestinal-sarcoidosis-successful-treatment-with-infliximab
#8
Laila Alawdah, Ahmad Nahari, Dayel Alshahrani, Musa Fagih, Shahid Ghazi, Abdulrahman Al-Hussaini
Gastrointestinal sarcoidosis is a rare disease with very limited data in children. Here we report the first pediatric case of successful treatment with infliximab. The first case was an 8-year-old Saudi girl who presented with fever, weight loss, and abdominal pain that was followed in a few months with hematemesis and development of hepatosplenomegaly. The second case was a 9-year-old Sudanese boy who manifested with vomiting, epigastric pain, and weight loss. On upper endoscopy, both cases demonstrated severe erosive nodular gastric mucosa...
September 2016: Saudi Journal of Gastroenterology: Official Journal of the Saudi Gastroenterology Association
https://www.readbyqxmd.com/read/27644954/elevated-serum-levels-of-interleukin-1%C3%AE-and-interleukin-33-in-patients-with-systemic-sclerosis-in-chinese-population
#9
Y-J Zhang, Q Zhang, G-J Yang, J-H Tao, G-C Wu, X-L Huang, Y Duan, X-P Li, D-Q Ye, J Wang
PURPOSE OF THE STUDY: Systemic sclerosis (SSc) is a multisystem autoimmune disease. Although the pathogenesis of the disease remains incompletely understood, some cytokines or growth factors which regulate SSc induction may be involved in the injury of endothelial cells and the modulation of leukocyte function. We aimed to perform this case-control study to determine serum levels of interleukin (IL)-1α, IL-1β, IL-18 and IL-33 and their associations with clinical manifestations in SSc patients...
September 19, 2016: Zeitschrift Für Rheumatologie
https://www.readbyqxmd.com/read/27633801/a-novel-multisystem-disease-associated-with-recessive-mutations-in-the-tyrosyl-trna-synthetase-yars-gene
#10
Małgorzata J M Nowaczyk, Lijia Huang, Mark Tarnopolsky, Jeremy Schwartzentruber, Jacek Majewski, Dennis E Bulman, Taila Hartley, Kym M Boycott
Aminoacyl-tRNA synthetases (ARSs) are a group of ubiquitously expressed enzymes that are best known for their function in the first step of protein translation but have been increasingly associated with secondary functions including transcription and translation control and extracellular signaling. Mutations in numerous ARSs have been linked to a growing number of both autosomal dominant and autosomal recessive human diseases. The tyrosyl-tRNA synthetase (YARS) links the amino acid tyrosine to its cognate tRNA...
September 15, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27619075/iq-and-hemizygosity-for-the-val-158-met-functional-polymorphism-of-comt-in-22q11ds
#11
Colleen P Franconi, Donna McDonald-McGinn, Elaine H Zackai, Meghan A McNamara, Harold Salmons, Edward Moss, Raquel E Gur, Marcella Devoto, Beverly S Emanuel
22q11.2 Deletion Syndrome (22q11DS) is a multisystem disorder caused by a hemizygous deletion within 22q11.2. Patients with the deletion display a wide range of cognitive deficits. The gene catechol-O-methyl-transferase (COMT) resides in the typically deleted region of 22q11.2 and is rendered hemizygous in individuals affected by the 22q11DS. COMT is a critical enzyme in the degradation of catecholamine neurotransmitters in the brain. A functional polymorphism, Val(158) Met, has been associated with a variety of neurocognitive outcomes...
December 2016: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/27576727/long-term-treatment-with-enzyme-replacement-therapy-in-patients-with-fabry-disease
#12
Daniel Oder, Peter Nordbeck, Christoph Wanner
Anderson-Fabry disease is a potentially life-threatening hereditary lysosomal storage disorder taking origin in over 1,000 known pathogenic mutations in the alpha-galactosidase A encoding gene. Over the past 15 years, intravenous replacement therapy of the deficient alpha agalsidase A enzyme has been well-established retarding the progression of a multisystemic disease and organ involvement. Despite this innovative treatment approach, premature deaths still do occur. The response to enzyme replacement therapy (ERT) varies considerably and appears to depend on gender, genotype (classic or later onset/non-classic), stage of disease or age and agalsidase inhibition by anti-agalsidase antibodies...
2016: Nephron
https://www.readbyqxmd.com/read/27563629/diagnostic-and-prognostic-significance-of-serum-soluble-endoglin-levels-in-preeclampsia-and-eclampsia
#13
Rekha Sachan, Munna Lal Patel, Soniya Dhiman, Pooja Gupta, Pushplata Sachan, Radhey Shyam
BACKGROUND: Preeclampsia is a multisystem disorder of unknown etiology that affects 4-5% of all pregnancies. The aim of the study was to evaluate the diagnostic accuracy of serum soluble endoglin (sEng) in preeclampsia and eclampsia and also to evaluate its prognostic significance. MATERIALS AND METHODS: This prospective case-control study carried out over a period of 1 year in the Department of Obstetrics and Gynaecology, King George Medical University, Lucknow...
2016: Advanced Biomedical Research
https://www.readbyqxmd.com/read/27531673/increased-expression-of-trpv1-in-peripheral-terminals-mediates-thermal-nociception-in-fabry-disease-mouse-model
#14
Jarmila Lakomá, Roberto Rimondini, Antonio Ferrer Montiel, Vincenzo Donadio, Rocco Liguori, Marco Caprini
Fabry disease is a X-linked lysosomal storage disorder caused by deficient function of the alpha-galactosidase A (α-GalA) enzyme. α-GalA deficiency leads to multisystemic clinical manifestations caused by the preferential accumulation of globotriaosylceramide (Gb3) in the endothelium and vascular smooth muscles. A hallmark symptom of Fabry disease patients is neuropathic pain that appears in the early stage of the disease as a result of peripheral small fiber damage. The α-GalA gene null mouse model (α-GalA(-/0)) has provided molecular evidence for the molecular alterations in small type-C nociceptors in Fabry disease that may underlie their hyperexcitability, although the specific mechanism remains elusive...
2016: Molecular Pain
https://www.readbyqxmd.com/read/27500162/cardiac-restricted-expression-of-vcp-ter94-rnai-or-disease-alleles-perturbs-drosophila-heart-structure-and-impairs-function
#15
Meera C Viswanathan, Anna C Blice-Baum, Tzu-Kang Sang, Anthony Cammarato
Valosin-containing protein (VCP) is a highly conserved mechanoenzyme that helps maintain protein homeostasis in all cells and serves specialized functions in distinct cell types. In skeletal muscle, it is critical for myofibrillogenesis and atrophy. However, little is known about VCP's role(s) in the heart. Its functional diversity is determined by differential binding of distinct cofactors/adapters, which is likely disrupted during disease. VCP mutations cause multisystem proteinopathy (MSP), a pleiotropic degenerative disorder that involves inclusion body myopathy...
June 2016: Journal of Cardiovascular Development and Disease
https://www.readbyqxmd.com/read/27493029/the-coq2-genotype-predicts-the-severity-of-coenzyme-q10-deficiency
#16
Maria Andrea Desbats, Valeria Morbidoni, Micol Silic-Benussi, Mara Doimo, Vincenzo Ciminale, Matteo Cassina, Sabrina Sacconi, Michio Hirano, Giuseppe Basso, Fabien Pierrel, Placido Navas, Leonardo Salviati, Eva Trevisson
COQ2 (p-hydroxybenzoate polyprenyl transferase) encodes the enzyme required for the second step of the final reaction sequence of Coenzyme Q10 (CoQ) biosynthesis. Its mutations represent a frequent cause of primary CoQ deficiency and have been associated with the widest clinical spectrum, ranging from fatal neonatal multisystemic disease to late-onset encephalopathy. However, the reasons of this variability are still unknown.We have characterized the structure of human COQ2, defined its subcellular localization and developed a yeast model to validate all the mutant alleles reported so far...
August 4, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27471012/development-of-a-model-system-for-neuronal-dysfunction-in-fabry-disease
#17
Christine R Kaneski, Roscoe O Brady, John A Hanover, Ulrike H Schueler
Fabry disease is a glycosphingolipid storage disorder that is caused by a genetic deficiency of the enzyme alpha-galactosidase A (AGA, EC 3.2.1.22). It is a multisystem disease that affects the vascular, cardiac, renal, and nervous systems. One of the hallmarks of this disorder is neuropathic pain and sympathetic and parasympathetic nervous dysfunction. The exact mechanism by which changes in AGA activity result in change in neuronal function is not clear, partly due to of a lack of relevant model systems. In this study, we report the development of an in vitro model system to study neuronal dysfunction in Fabry disease by using short-hairpin RNA to create a stable knock-down of AGA in the human cholinergic neuronal cell line, LA-N-2...
September 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27454006/cytoskeleton-aberrations-in-alkaptonuric-chondrocytes
#18
Michela Geminiani, Silvia Gambassi, Lia Millucci, Pietro Lupetti, Giulia Collodel, Lucia Mazzi, Bruno Frediani, Daniela Braconi, Barbara Mazzocchi, Marcella Laschi, Giulia Bernardini, Annalisa Santucci
Alkaptonuria (AKU) is an ultra-rare autosomal genetic disorder caused by a defect in the activity of the enzyme homogentisate 1,2-dioxygenase (HGD) that leads to the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in the connective tissues causing a pigmentation called "ochronosis". The consequent progressive formation of ochronotic aggregates generate a severe condition of oxidative stress and inflammation in all the affected areas. Experimental evidences have also proved the presence of serum amyloid A (SAA) in several AKU tissues and it allowed classifying AKU as a secondary amyloidosis...
July 25, 2016: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/27406389/a-fatal-yellow-fever-virus-infection-in-china-description-and-lessons
#19
Zhihai Chen, Lin Liu, Yanning Lv, Wei Zhang, Jiandong Li, Yi Zhang, Tian Di, Shuo Zhang, Jingyuan Liu, Jie Li, Jing Qu, Wenhao Hua, Chuan Li, Peng Wang, Quanfu Zhang, Yanli Xu, Rongmeng Jiang, Qin Wang, Lijuan Chen, Shiwen Wang, Xinghuo Pang, Mifang Liang, Xuejun Ma, Xingwang Li, Quanyi Wang, Fujie Zhang, Dexin Li
Yellow fever (YF) is a viral disease endemic to the tropical regions of Africa and South America. An outbreak of YF has been occurring in Angola, since the beginning of 2016. In March 2016, a 32-year-old Chinese man who returned from Angola was hospitalized and diagnosed with the first case of imported YF in China. Clinical observations, blood viral RNA detection, serological testing and treatments for the patient were performed daily. The virus was isolated in Vero cells, and the complete viral genome was sequenced and analyzed using the next-generation genomic sequencing platform...
2016: Emerging Microbes & Infections
https://www.readbyqxmd.com/read/27376160/asfotase-alfa-enzyme-replacement-for-the-treatment-of-bone-disease-in-hypophosphatasia
#20
REVIEW
C Hofmann, L Seefried, F Jakob
Hypophosphatasia (HPP) is a rare disease caused by loss-of-function mutations in the tissue-nonspecific alkaline phosphatase (TNAP, TNSALP) gene. HPP causes a multisystemic syndrome with a predominant bone phenotype. The clinical spectrum ranges from high lethality in early onset (<6 months) HPP to mild late-onset syndromes. HPP management so far has been only supportive. Subcutaneous asfotase alfa, a first-in-class bone-targeted human TNAP enzyme replacement therapy, is the first compound to be approved for long-term treatment of bone manifestations in pediatric-onset HPP...
May 2016: Drugs of Today
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