keyword
MENU ▼
Read by QxMD icon Read
search

Storage disease

keyword
https://www.readbyqxmd.com/read/28650454/analysis-of-hematopoietic-recovery-after-autologous-transplantation-as-method-of-quality-control-for-long-term-progenitor-cell-cryopreservation
#1
J Pavlů, H W Auner, R M Szydlo, B Sevillano, R Palani, F O'Boyle, A Chaidos, C Jakob, E Kanfer, D MacDonald, D Milojkovic, A Rahemtulla, A Bradshaw, E Olavarria, J F Apperley, O M Pello
Hematopoietic precursor cells (HPC) are able to restore hematopoiesis after high-dose chemotherapy and their cryopreservation is routinely employed prior to the autologous hematopoietic cell transplantation (AHCT). Although previous studies showed feasibility of long-term HPC storage, concerns remain about possible negative effects on their potency. To study the effects of long-term cryopreservation, we compared time to neutrophil and platelet recovery in 50 patients receiving two AHCT for multiple myeloma at least 2 years apart between 2006 and 2016, using HPC obtained from one mobilization and collection attempt before the first transplant...
June 26, 2017: Bone Marrow Transplantation
https://www.readbyqxmd.com/read/28649516/novel-frameshift-variant-in-the-idua-gene-underlies-mucopolysaccharidoses-type-i-in-a-consanguineous-yemeni-pedigree
#2
Belal Azab, Zain Dardas, Mohannad Hamarsheh, Mohammad Alsalem, Zaid Kilani, Farah Kilani, Abdalla Awidi, Hanan Jafar, Sami Amr
Mucopolysaccharidosis type I (MPS I) is an autosomal recessive storage disorder that result as a consequence of a deficiency in the lysosomal hydrolase, a-L-iduronidase enzyme encoded by IDUA gene. Over a hundred causative variants in IDUA have been identified, which result in a progressive multi-systemic disease with a broad range of severity and disease progression reported across affected individuals. The aim of this study was the detection and interpretation of IDUA mutation in a family with two children affected with lethal MPS I...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28649514/early-hematopoietic-stem-cell-transplantation-in-a-patient-with-severe-mucopolysaccharidosis-ii-a-7%C3%A2-years-follow-up
#3
Anneliese L Barth, Tatiana S P C de Magalhães, Ana Beatriz R Reis, Maria Lucia de Oliveira, Fernanda B Scalco, Nicolette C Cavalcanti, Daniel S E Silva, Danielle A Torres, Alessandra A P Costa, Carmem Bonfim, Roberto Giugliani, Juan C Llerena, Dafne D G Horovitz
Mucopolysaccharidosis type II (MPS II - Hunter syndrome) is an X-linked lysosomal storage disorder caused by a deficiency in the enzyme iduronate-2 sulfatase (I2S), leading to the accumulation of the glycosaminoglycans, affecting multiple organs and systems. Enzyme replacement therapy does not cross the blood brain barrier, limiting results in neurological forms of the disease. Another option of treatment for severe MPS, hematopoietic stem cell transplantation (HSCT) has become the treatment of choice for the severe form of MPS type I, since it can preserve neurocognition when performed early in the course of the disease...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28649509/fabry-disease-four-case-reports-of-meningioma-and-a-review-of-the-literature-on-other-malignancies
#4
Beth L Thurberg, Dominique P Germain, Fernando Perretta, Iulia E Jurca-Simina, Juan M Politei
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by loss of function mutations in the GLA gene at Xq22 with subsequent functional deficiency of alpha-galactosidase A, resulting in the accumulation of globotriaosylceramide (GL-3 or Gb3) in multiple cells types throughout the body. As with other rare metabolic disorders, little is known about the incidence of malignancies in these populations and the relationship to the underlying disease, if any. We report the occurrence of meningioma in four female patients with Fabry disease...
June 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28648811/a-case-of-improved-hearing-with-cochlear-implantation-in-gaucher-disease-type-1
#5
Shiori Endo, Kunihiro Mizuta, Takashi Yamatodani, Hiroshi Nakanishi, Kumiko Hosokawa, Kiyoshi Misawa, Seiji Hosokawa, Hiroyuki Mineta
Gaucher disease is a lysosomal storage disorder that is caused by congenital defective function of the enzyme glucocerebrosidase. Glucocerebroside that is not hydrolyzed by glucocerebrosidase mainly accumulates in the reticular tissue. We describe a Japanese boy with Gaucher disease type 1 who developed bilateral profound sensorineural hearing loss within approximately 4years. We performed cochlear implantation initially on his right ear and again on his left ear 5 months later. The cochlear implants were successfully utilized with a speech discrimination score of 95% on a Japanese sentence recognition test...
June 22, 2017: Auris, Nasus, Larynx
https://www.readbyqxmd.com/read/28648584/control-of-lipid-droplet-fusion-and-growth-by-cide-family-proteins
#6
REVIEW
Guangang Gao, Feng-Jung Chen, Linkang Zhou, Lu Su, Dijin Xu, Li Xu, Peng Li
Cell death-inducing DFF45-like effector (CIDE) family proteins including Cidea, Cideb and Cidec/Fsp27 are expressed in many different tissues and are known as lipid droplet (LD)-and ER-associated proteins. Systematic analyses using genetically modified animal models have demonstrated that CIDE proteins play important roles in regulating various aspects of lipid homeostasis, including lipid storage, lipolysis and lipid secretion. Recent research in ours and other laboratories has revealed that CIDE proteins are crucial regulators of LD fusion and growth in the adipose tissue, liver, skin and mammary glands...
June 22, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28648292/fusarium-proliferatum-causal-agent-of-garlic-bulb-rot-in-spain-genetic-variability-and-mycotoxin-production
#7
Laura Gálvez, Monika Urbaniak, Agnieszka Waśkiewicz, Łukasz Stępień, Daniel Palmero
Fusarium proliferatum is a world-wide occurring fungal pathogen affecting several crops included garlic bulbs. In Spain, this is the most frequent pathogenic fungus associated with garlic rot during storage. Moreover, F. proliferatum is an important mycotoxigenic species, producing a broad range of toxins, which may pose a risk for food safety. The aim of this study is to assess the intraspecific variability of the garlic pathogen in Spain implied by analyses of translation elongation factor (tef-1α) and FUM1 gene sequences as well as the differences in growth rates...
October 2017: Food Microbiology
https://www.readbyqxmd.com/read/28646478/newborn-screening-for-fabry-disease-in-the-north-west-of-spain
#8
Cristobal Colon, Saida Ortolano, Cristina Melcon-Crespo, Jose V Alvarez, Olalla E Lopez-Suarez, Maria L Couce, José R Fernández-Lorenzo
Fabry disease is an X-linked lysosomal storage disorder caused by the impairment of α-galactosidase A. Enzyme replacement therapy is available to treat patients, who often experience delayed diagnosis. A newborn screening for Fabry disease was performed to study the prevalence of the pathology and to evaluate the possibility to implement the test in systematic screenings. We collected 14,600 dried blood spot samples (7575 males and 7025 females) and carried out a diagnostic study by fluorometric measurement of α-galactosidase A enzymatic activity and GLA gene sequencing...
June 23, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28645844/modelling-and-interpreting-mesoscale-network-dynamics
#9
REVIEW
Ankit N Khambhati, Ann E Sizemore, Richard F Betzel, Danielle S Bassett
Recent advances in brain imaging techniques, measurement approaches, and storage capacities have provided an unprecedented supply of high temporal resolution neural data. These data present a remarkable opportunity to gain a mechanistic understanding not just of circuit structure, but also of circuit dynamics, and its role in cognition and disease. Such understanding necessitates a description of the raw observations, and a delineation of computational models and mathematical theories that accurately capture fundamental principles behind the observations...
June 20, 2017: NeuroImage
https://www.readbyqxmd.com/read/28645721/comparison-of-different-inactivation-methods-on-the-stability-of-indian-vaccine-strains-of-foot-and-mouth-disease-virus
#10
Arunava Sarkar, Ramasamy Periyasamy Tamil Selvan, Subodh Kishore, Kondabattula Ganesh, Veerakyathappa Bhanuprakash
In this study, the efficiency of binary ethyleneimine (BEI) in combination with formaldehyde (FA) and glutaraldehyde (GTA) in inactivating the Indian FMDV vaccine strains is compared. The acceptable safety of virus inactivation was faster and the inactivation rates were increased many-folds with combination of inactivants than BEI alone. FMDV A was inactivated rapidly than the other two serotypes with BEI + FA combination. Inactivation plots were linear for all the serotypes irrespective of inactivation process...
June 20, 2017: Biologicals: Journal of the International Association of Biological Standardization
https://www.readbyqxmd.com/read/28645650/isolation-identification-and-biocontrol-of-antagonistic-bacterium-against-botrytis-cinerea-after-tomato-harvest
#11
Jun-Feng Shi, Chang-Qing Sun
Tomato is one of the most important vegetables in the world. Decay after harvest is a major issue in the development of tomato industry. Currently, the most effective method for controlling decay after harvest is storage of tomato at low temperature combined with usage of chemical bactericide; however, long-term usage of chemical bactericide not only causes pathogen resistance but also is harmful for human health and environment. Biocontrol method for the management of disease after tomato harvest has great practical significance...
June 3, 2017: Brazilian Journal of Microbiology: [publication of the Brazilian Society for Microbiology]
https://www.readbyqxmd.com/read/28643291/-more-than-expectorant-new-scientific-data-on-ambroxol-in-the-context-of-the-treatment-of-bronchopulmonary-diseases
#12
Manuel Plomer, Justus de Zeeuw
BACKGROUND: Ambroxol has been established for decades in the treatment of acute and chronic respiratory diseases. In 2015, the European Medicines Agency reassessed the clinical benefit-risk ratio of the drug. OBJECTIVE: What new scientific data on ambroxol, which are relevant to the treatment of bronchopulmonary diseases, are available? METHOD: The review is based on a systematic literature research in medline with the search term "ambroxol" during the publication period 2006-2015...
June 2017: MMW Fortschritte der Medizin
https://www.readbyqxmd.com/read/28642195/how-lipid-droplets-tag-along-glycerolipid-synthetic-enzymes-and-lipid-storage
#13
REVIEW
Huan Wang, Michael V Airola, Karen Reue
Triacylglycerols (TAG) serve as the predominant form of energy storage in mammalian cells, and TAG synthesis influences conditions such as obesity, fatty liver, and insulin resistance. In most tissues, the glycerol 3-phosphate pathway enzymes are responsible for TAG synthesis, and the regulation and function of these enzymes is therefore important for metabolic homeostasis. Here we review the sites and regulation of glycerol-3-phosphate acyltransferase (GPAT), acylglycerol-3-phosphate acyltransferase (AGPAT), lipin/phosphatidic acid phosphatase (PAP), and diacylglycerol acyltransferase (DGAT) enzyme action...
June 19, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28641519/neural-stem-cells-and-human-induced-pluripotent-stem-cells-to-model-rare-cns-diseases
#14
Lidia De Filippis, Cristina Zalfa, Daniela Ferrari
Despite the great effort spent over the last decades to unravel the pathological mechanisms underpinning the development of central nervous system disorders, most of them remain still unclear. In particular, the study of rare brain diseases is hurdled by the lack of post-mortem samples and of reliable epidemiological studies, thus the setting of in vitro modeling systems appears essential to dissect the puzzle of genetic and environmental alterations affecting neural cells viability and functionality The isolation and expansion in vitro of embryonic (ESC) and fetal neural stem cells (NSC) from human tissue has efficiently allowed to model several neurological diseases "in a dish" and has also provided a novel platform to test potential therapeutic strategies in a pre-clinical setting...
June 15, 2017: CNS & Neurological Disorders Drug Targets
https://www.readbyqxmd.com/read/28638917/influence-of-sodium-nitroprusside-on-expressions-of-fbxl5-and-irp2-in-sh-sy5y-cells
#15
Jie Wei, Yong Li, Qian Jiao, Xi-Xun DU, Hong Jiang
Iron accumulation in the brain is associated with the pathogenesis of Parkinson's disease (PD). Misexpression of some iron transport and storage proteins is related to iron dyshomeostasis. Iron regulatory proteins (IRPs) including IRP1 and IRP2 are cytosolic proteins that play important roles in maintaining cellular iron homeostasis. F-box and leucine-rich repeat protein 5 (FBXL5) is involved in the regulation of iron metabolism by degrading IRP2 through the ubiquitin-proteasome system. Nitric oxide (NO) enhances the binding activity of IRP1, but its effect on IRP2 is ambiguous...
June 25, 2017: Sheng Li Xue Bao: [Acta Physiologica Sinica]
https://www.readbyqxmd.com/read/28636161/infinity-sperm-storage-the-gift-that-keeps-on-giving
#16
Gauthier Schang, Beatriz Fernandez-Fuertes, Samantha C Lean, Alexandra L Nguyen, Osvaldo Bogado Pascottini
Female Drosophila retain sperm for up to two weeks post-copulation in a network of storage organs includng the bursa, the seminal receptacle, and the spermathecae. This image shows the seminal receptacle of a Drosophila melanogaster female, 2-hrs post-copulation between a LHM (wild-type) female with a Protamine B (green), β-Tubulin (blue) fluorescently tagged male, whose sperm can be visualized within the female. This 'infinity' structure of the seminal receptacle resembles the tubular coil that allows for the storage of very long sperm relative to female body size -up to 20 times the length of the female in some Drosophila species...
June 21, 2017: Molecular Reproduction and Development
https://www.readbyqxmd.com/read/28631163/evaluation-of-streck-bct-and-paxgene-stabilised-blood-collection-tubes-for-cell-free-circulating-dna-studies-in-plasma
#17
Kristina Warton, Nicole L Yuwono, Mark J Cowley, Mark J McCabe, Alwin So, Caroline E Ford
INTRODUCTION: Blood samples for studies of circulating DNA in disease are often collected in clinical settings where prompt processing of samples is not possible. In order to avoid problems associated with leukocyte lysis after prolonged blood storage, stabilised blood tubes have been developed containing preservatives that prevent cell lysis. We evaluated Streck BCT tubes and PAXgene ccfDNA tubes, as well as standard EDTA blood collection tubes, in terms of DNA yield and fragment size...
June 19, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28630259/triacylglycerol-mimetics-regulate-membrane-interactions-of-glycogen-branching-enzyme-implications-for-therapy
#18
Rafael Alvarez, Jesús Casas, David J López, Maitane Ibarguren, Ariadna Suari-Rivera, Silvia Terés, Francisca Guardiola-Serrano, Alexander Lossos, Xavier Busquets, Or Kakhlon, Pablo V Escribá
Adult Polyglucosan Body Disease (APBD) is a neurological disorder characterized by adult-onset neurogenic bladder, spasticity, weakness, and sensory loss. The disease is caused by aberrant glycogen branching enzyme (GBE1-Y329S) yielding less branched, globular and soluble glycogen which tends to aggregate. We explore here whether, despite being a soluble enzyme, GBE1 activity is regulated by protein-membrane interactions. Since soluble proteins can contact a wide variety of cell membranes, we investigated the interactions of purified wild-type and Y329S GBE1 proteins with different types of model membranes (liposomes)...
June 19, 2017: Journal of Lipid Research
https://www.readbyqxmd.com/read/28629921/the-importance-of-vaccine-supply-chains-to-everyone-in-the-vaccine-world
#19
Bruce Y Lee, Leila A Haidari
While the focus of many in the vaccine world has been on developing new vaccines and measuring their effects on humans, failure to understand and properly address vaccine supply chain issues can greatly reduce the impact of any vaccine. Therefore, everyone involved in vaccine decision-making may want to take into account supply chains when making key decisions. In fact, considering supply chain issues long before a vaccine reaches the market can help design vaccines and vaccine programs that better match the system...
June 16, 2017: Vaccine
https://www.readbyqxmd.com/read/28629821/glycogen-reduction-in-myotubes-of-late-onset-pompe-disease-patients-using-antisense-technology
#20
Elisa Goina, Paolo Peruzzo, Bruno Bembi, Andrea Dardis, Emanuele Buratti
Glycogen storage disease type II (GSDII) is a lysosomal disorder caused by the deficient activity of acid alpha-glucosidase (GAA) enzyme, leading to the accumulation of glycogen within the lysosomes. The disease has been classified in infantile and late-onset forms. Most late-onset patients share a splicing mutation c.-32-13T > G in intron 1 of the GAA gene that prevents efficient recognition of exon 2 by the spliceosome. In this study, we have mapped the splicing silencers of GAA exon 2 and developed antisense morpholino oligonucleotides (AMOs) to inhibit those regions and rescue normal splicing in the presence of the c...
June 16, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
keyword
keyword
78547
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"