Lumbar gibbus in storage diseases and bone dysplasias

Energy Technology Data Exchange (ETDEWEB)

Levin, T.L. [Department of Radiology, Division of Pediatric Radiology, Columbia-Presbyterian Medical Center, Babies and Children`s Hospital of New York, NY (United States); Berdon, W.E. [Department of Radiology, Division of Pediatric Radiology, Columbia-Presbyterian Medical Center, Babies and Children`s Hospital of New York, NY (United States); Lachman, R.S. [International Skeletal Dysplasia Registry, Los Angeles, CA (United States); Anyane-Yeboa, K. [Department of Pediatrics, Columbia-Presbyterian Medical Center, Babies and Children`s Hospital of New York, NY (United States); Ruzal-Shapiro, C. [Department of Radiology, Division of Pediatric Radiology, Columbia-Presbyterian Medical Center, Babies and Children`s Hospital of New York, NY (United States); Roye, D.P. Jr. [Department of Orthopedic Surgery, Columbia-Presbyterian Medical Center, Babies and Children`s Hospital of New York, NY (United States)

1997-04-01

Objective. The objective of this study was to review the problem of lumbar gibbus in children with storage diseases and bone dysplasias utilizing plain films and MR imaging. Materials and methods. Clinical histories and radiographic images in five patients with storage diseases [four mucopolysaccharidosis (MPS) and one mucolipidosis] and two with achondroplasia were reviewed. The International Skeletal Dysplasia Registry (Los Angeles, Calif.), surveyed for all patients with lumbar gibbus and skeletal dysplasias, provided 12 additional cases. Results. All patients had localized gibbus of the upper lumbar spine, characterized by anterior wedging and posterior displacement of the vertebrae at the apex of the curve, producing a beaked appearance. The curve, exaggerated in the sitting or standing position, was most severe in the two patients with MPS-IV (one of whom died). Both developed severe neurologic signs and symptoms requiring surgical intervention. In four patients, MR images demonstrated the apex of the curve to be at or below the conus. Two patients demonstrated anterior herniation of the intervertebral discs at the apex of the curve, though the signal intensity of the intervertebral discs was normal. Conclusion. Lumbar gibbus has important neurologic and orthopedic implications, and is most severe in patients with MPS. The etiology of the gibbus with vertebral beaking is multifactorial and includes poor truncal muscle tone, weight-bearing forces, growth disturbance and anterior disc herniation. The curve is generally at or below the conus. Neurologic complications are unusual, although orthopedic problems can arise. Due to their longer survival, patients with achondroplasia or Morquio`s disease are more vulnerable to eventual gibbus-related musculoskeletal complications. (orig.). With 6 figs., 2 tabs.

Lumbar gibbus in storage diseases and bone dysplasias

International Nuclear Information System (INIS)

Levin, T.L.; Berdon, W.E.; Lachman, R.S.; Anyane-Yeboa, K.; Ruzal-Shapiro, C.; Roye, D.P. Jr.

1997-01-01

Objective. The objective of this study was to review the problem of lumbar gibbus in children with storage diseases and bone dysplasias utilizing plain films and MR imaging. Materials and methods. Clinical histories and radiographic images in five patients with storage diseases [four mucopolysaccharidosis (MPS) and one mucolipidosis[ and two with achondroplasia were reviewed. The International Skeletal Dysplasia Registry (Los Angeles, Calif.), surveyed for all patients with lumbar gibbus and skeletal dysplasias, provided 12 additional cases. Results. All patients had localized gibbus of the upper lumbar spine, characterized by anterior wedging and posterior displacement of the vertebrae at the apex of the curve, producing a beaked appearance. The curve, exaggerated in the sitting or standing position, was most severe in the two patients with MPS-IV (one of whom died). Both developed severe neurologic signs and symptoms requiring surgical intervention. In four patients, MR images demonstrated the apex of the curve to be at or below the conus. Two patients demonstrated anterior herniation of the intervertebral discs at the apex of the curve, though the signal intensity of the intervertebral discs was normal. Conclusion. Lumbar gibbus has important neurologic and orthopedic implications, and is most severe in patients with MPS. The etiology of the gibbus with vertebral beaking is multifactorial and includes poor truncal muscle tone, weight-bearing forces, growth disturbance and anterior disc herniation. The curve is generally at or below the conus. Neurologic complications are unusual, although orthopedic problems can arise. Due to their longer survival, patients with achondroplasia or Morquio's disease are more vulnerable to eventual gibbus-related musculoskeletal complications. (orig.). With 6 figs., 2 tabs

Lysosomes, Lysosomal Storage Diseases, and Inflammation

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Calogera M. Simonaro PhD

2016-05-01

Full Text Available Lysosomes were originally described in the early 1950s by de Duve who was also the first to recognize the importance of these organelles in human disease. We know now that lysosomes are involved in numerous biological processes, and abnormalities in lysosomal function may result in a broad range of diseases. This review will briefly discuss the role of lysosomes in inflammation and how disruption of normal lysosomal function in the lysosomal storage diseases (LSDs leads to abnormalities in inflammation and immunity.

Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib : Results of the European Study on Glycogen Storage Disease Type I

NARCIS (Netherlands)

Visser, G; Rake, JP; Fernandes, J; Labrune, P; Leonard, JV; Moses, S; Ullrich, K; Smit, GPA

Objective: To investigate the incidence, the severity, and the course of neutropenia, neutrophil dysfunction, and inflammatory bowel disease (IBD) in glycogen storage disease (GSD) type Ib. Method: As part of a collaborative European Study on GSD type I, a retrospective registry was established in

DYNAMICS AND INTENSITY OF APLE DISEASE DEVELOPMENT DURING ITS STORAGE

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D. Ivić

2006-12-01

Full Text Available Post-harvest apple fruit diseases are primarily caused by fungi. The object of this research was to quantify yield loss caused by post-harvest diseases and to determine fungal species responsible for storage rots on the cv. Idared during three months of storage, as well as to compare the development of fungi inoculated on apple fruits in the laboratory conditions. Only fruits with the visible rot symptoms were regarded as "diseased". Total yield loss during all three months of storage was 1.9%. The percentage of diseased fruits increased from the harvest moment to the end of storage. The most frequent cause of post-harvest rot in all assessments was Monilia fructigena. Penicillium species and Botrytis cinerea were present in relatively high percentage. All fungal isolates from diseased fruits caused fruit rot when inoculated on apples and incubated for 28 days at 22°C. On fruits inoculated with the same isolates and incubated at 4°C rot development was slower. Isolates of M. fructigena developed most rapidly on inoculated fruits at 22°C, while the isolates of B. cinerea developed most rapidly at 4°C.

Panhypopituitarism Due to Hemochromatosis

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Mesut Özkaya; Kadir Gis; Ali Çetinkaya

2013-01-01

Hemochromatosis is an iron storage disease. Panhypopituitarism is a clinical condition in which the anterior pituitary hormones are deficient. Herein, we report a rare case of panhypopituitarism due to hemochromatosis. Turk Jem 2013; 17: 125-6

Pregnancies in glycogen storage disease type Ia

NARCIS (Netherlands)

Martens, Danielle H. J.; Rake, Jan Peter; Schwarz, Martin; Ullrich, Kurt; Weinstein, David A.; Merkel, Martin; Sauer, Pieter J. J.; Smit, G. Peter A.

OBJECTIVE: Reports on pregnancies in women with glycogen storage disease type Ia (GSD-Ia) are scarce. Because of improved life expectancy, pregnancy is becoming an important issue. We describe 15 pregnancies by focusing on dietary treatment, biochemical parameters, and GSD-Ia complications. STUDY

Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European Study on Glycogen Storage Disease Type 1

NARCIS (Netherlands)

Visser, G.; Rake, J.P.; Labrune, P.; Leonard, J.V.; Moses, S.; Ullrich, K.; Wendel, U.; Groenier, K.H.; Smit, G.P.

2002-01-01

Patients with glycogen storage disease type 1b (GSD-1b) have neutropenia and neutrophil dysfunction that predispose to frequent infections and inflammatory bowel disease (IBD), for which granulocyte colony-stimulating factor (GCSF) is given. To investigate the use and the value of GCSF treatment in

Blocked muscle fat oxidation during exercise in neutral lipid storage disease

DEFF Research Database (Denmark)

Laforêt, Pascal; Ørngreen, Mette; Preisler, Nicolai

2012-01-01

To determine whether impaired exercise capacity in neutral lipid storage disease with myopathy is solely caused by muscle weakness or whether a defect in energy metabolism (blocked fat oxidation) may also play a role.......To determine whether impaired exercise capacity in neutral lipid storage disease with myopathy is solely caused by muscle weakness or whether a defect in energy metabolism (blocked fat oxidation) may also play a role....

Tay Sachs and Related Storage Diseases: Family Planning

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Schneiderman, Gerald; And Others

1978-01-01

Based on interviews with 24 families, the article discusses family planning and the choices available to those families in which a child has previously died from Tay-Sachs or related lipid storage diseases. (IM)

The lysosomal storage disease continuum with ageing-related neurodegenerative disease.

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Lloyd-Evans, Emyr; Haslett, Luke J

2016-12-01

Lysosomal storage diseases and diseases of ageing share many features both at the physiological level and with respect to the mechanisms that underlie disease pathogenesis. Although the exact pathophysiology is not exactly the same, it is astounding how many similar pathways are altered in all of these diseases. The aim of this review is to provide a summary of the shared disease mechanisms, outlining the similarities and differences and how genetics, insight into rare diseases and functional research has changed our perspective on the causes underlying common diseases of ageing. The lysosome should no longer be considered as just the stomach of the cell or as a suicide bag, it has an emerging role in cellular signalling, nutrient sensing and recycling. The lysosome is of fundamental importance in the pathophysiology of diseases of ageing and by comparing against the LSDs we not only identify common pathways but also therapeutic targets so that ultimately more effective treatments can be developed for all neurodegenerative diseases. Copyright © 2016. Published by Elsevier B.V.

Consensus guidelines for management of glycogen storage disease type 1b - European Study on Glycogen Storage Disease Type 1

NARCIS (Netherlands)

Visser, G; Rake, JP; Labrune, P; Leonard, JV; Moses, S; Ullrich, K; Wendel, U; Smit, GPA

2002-01-01

Life expectancy in glycogen storage disease type 1 (GSD-1) has improved considerably. Its relative rarity implies that no metabolic centre has experience of large series of patients and therefore experience with long-term management and follow-up at each centre is limited. There is wide variation in

Guidelines for management of glycogen storage disease type I - European study on glycogen storage disease type I (ESGSD I)

NARCIS (Netherlands)

Rake, JP; Visser, G; Labrune, P; Leonard, JV; Ullrich, K; Smit, GPA

2002-01-01

Life-expectancy in glycogen storage disease type I (GSD I) has improved considerably. Its relative rarity implies that no metabolic centre has experience of large series of patients and experience with long-term management and follow-up at each centre is limited. There is wide variation in methods

Effects of postharvest salicylic acid dipping on Alternaria rot and disease resistance of jujube fruit during storage.

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Cao, Jiankang; Yan, Jiaqi; Zhao, Yumei; Jiang, Weibo

2013-10-01

Considerable postharvest losses caused by Alternaria alternata often occur in Chinese jujube fruit, and synthetic fungicides have been widely used to protect the fruit from Alternaria rot. However, the potential harmfulness of fungicide residues to human health and the environment cannot be ignored. This study was conducted to develop an alternative approach for controlling postharvest disease by inducing fruit resistance with salicylic acid (SA) dipping. Disease incidence and lesion area in the jujube fruit inoculated with A. alternata were significantly inhibited by 2 and 2.5 mmol L(-1) SA dipping. Naturally infected decay rate and index in jujubes were also significantly reduced by SA dipping during long-term storage at 0°C. SA enhanced activities of the main defense-related enzymes including phenylalanine ammonia-lyase, peroxidase, chitinase and β-1,3-glucanase in the fruit during storage. SA strongly decreased catalase activity but increased superoxide dismutase activity and ascorbic acid content in jujubes. The beneficial effects of SA on fruit protection may be due to its ability to activate several highly coordinated defence-related systems in jujubes, instead of its fungicidal activity. The findings indicated that application of SA would offer an alternative approach that helps to control postharvest disease and maintain storage quality in fruits. © 2013 Society of Chemical Industry.

Neuroinflammatory paradigms in lysosomal storage diseases

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Megan Elizabeth Bosch

2015-10-01

Full Text Available Lysosomal storage diseases (LSDs include approximately 70 distinct disorders that collectively account for 14% of all inherited metabolic diseases. LSDs are caused by mutations in various enzymes/proteins that disrupt lysosomal function, which impairs macromolecule degradation following endosome-lysosome and phagosome-lysosome fusion and autophagy, ultimately disrupting cellular homeostasis. LSDs are pathologically typified by lysosomal inclusions composed of a heterogeneous mixture of various proteins and lipids that can be found throughout the body. However, in many cases the CNS is dramatically affected, which may result from heightened neuronal vulnerability based on their post-mitotic state. Besides intrinsic neuronal defects, another emerging factor common to many LSDs is neuroinflammation, which may negatively impact neuronal survival and contribute to neurodegeneration. Microglial and astrocyte activation is a hallmark of many LSDs that affect the CNS, which often precedes and predicts regions where eventual neuron loss will occur. However, the timing, intensity, and duration of neuroinflammation may ultimately dictate the impact on CNS homeostasis. For example, a transient inflammatory response following CNS insult/injury can be neuroprotective, as glial cells attempt to remove the insult and provide trophic support to neurons. However, chronic inflammation, as seen in several LSDs, can promote neurodegeneration by creating a neurotoxic environment due to elevated levels of cytokines, chemokines, and pro-apoptotic molecules. Although neuroinflammation has been reported in several LSDs, the cellular basis and mechanisms responsible for eliciting neuroinflammatory pathways are just beginning to be defined. This review highlights the role of neuroinflammation in select LSDs and its potential contribution to neuron loss.

Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease

NARCIS (Netherlands)

Robak, L.A.; Jansen, I.E.; Rooij, J van; Uitterlinden, A.G.; Kraaij, R.; Jankovic, J.; Heutink, P.; Shulman, J.M.; Bloem, B.; Post, B.; Scheffer, H.; Warrenburg, B.P.C. van de; et al.,

2017-01-01

Mutations in the glucocerebrosidase gene (GBA), which cause Gaucher disease, are also potent risk factors for Parkinson's disease. We examined whether a genetic burden of variants in other lysosomal storage disorder genes is more broadly associated with Parkinson's disease susceptibility. The

A novel PNPLA2 mutation causes neutral lipid storage disease with myopathy (NLSDM) presenting muscular dystrophic features with lipid storage and rimmed vacuoles.

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Chen, J; Hong, D; Wang, Z; Yuan, Y

2010-01-01

Neutral lipid storage disease with myopathy (NLSDM) is a type of lipid storage myopathy arising due to a mutation in the PNPLA2 gene encoding an adipose triglyceride lipase responsible for the degradation of intracellular triglycerides. Herein, we report the cases of two siblings manifesting slowly progressive proximal and distal limb weakness in adulthood. One of the patients had dilated cardiomyopathy, hearing loss and short stature. Muscle specimens of the 2 patients revealed muscular dystrophic features with massive lipid droplets and numerous rimmed vacuoles in the fibers. A novel homozygous mutation IVS2+1G > A in the PNPLA2 gene was identified in the 2 cases, but not in the healthy familial individuals. The presence of massive lipid droplets with muscular dystrophic changes and rimmed vacuoles in muscle fibers might be one of the characteristic pathological changes of NLSDM.

State gun safe storage laws and child mortality due to firearms.

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Cummings, P; Grossman, D C; Rivara, F P; Koepsell, T D

1997-10-01

Since 1989, several states have passed laws that make gun owners criminally liable if someone is injured because a child gains unsupervised access to a gun. These laws are controversial, and their effect on firearm-related injuries is unknown. To determine if state laws that require safe storage of firearms are associated with a reduction in child mortality due to firearms. An ecological study of firearm mortality from 1979 through 1994. All 50 states and the District of Columbia. All children younger than 15 years. Unintentional deaths, suicides, and homicides due to firearms. Laws that make gun owners responsible for storing firearms in a manner that makes them inaccessible to children were in effect for at least 1 year in 12 states from 1990 through 1994. Among children younger than 15 years, unintentional shooting deaths were reduced by 23% (95% confidence interval, 6%-37%) during the years covered by these laws. This estimate was based on within-state comparisons adjusted for national trends in unintentional firearm-related mortality. Gun-related homicide and suicide showed modest declines, but these were not statistically significant. State safe storage laws intended to make firearms less accessible to children appear to prevent unintentional shooting deaths among children younger than 15 years.

Gaucher disease and other storage disorders.

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Grabowski, Gregory A

2012-01-01

In 1882, Philippe Gaucher described a 32-year-old woman with massive splenomegaly and unusually large cells in the spleen, which he called a "primary epithelioma of the spleen." The systemic nature and inheritance of the disease and its variants involving the viscera and CNS were described over the next century. The delineation of the causal enzymatic defects, genetics, molecular pathology, and genomics have provided pathogenic insights into the phenotypic spectrum and the bases for development of specific therapies for what is now known as Gaucher disease. As a prototype, the clinically and economically successful intracellular enzyme therapy provided the impetus for the expansion of similar research and therapeutic developments for other lysosomal storage diseases (LSDs) and orphan diseases, including Fabry, Pompe, and Niemann-Pick diseases, as well as several mucopolysaccharidoses. Continuing studies of such LSDs, which occur as a group in more than 7000 live births, have revealed the complex molecular interdigitation with the autophagy and apoptotic pathways and proteostasis and the impact of disruptions of the lysosomal/autophagy and proteostasis systems on more common diseases has been recognized. Examples include age-related neurodegenerative diseases (eg, Parkinson disease and Gaucher disease), idiopathic hypertrophic myocardiopathies, stroke and renal failure (eg, Fabry disease), and Nonalcoholic Fatty Liver Disease/Nonalcoholic SteatoHepatitis (NAFLD/NASH) and atherosclerosis (eg, lysosomal acid lipase deficiencies). Although perceived as rare, the availability of treatment and the impact of the LSDs on more common diseases require their integration into routine clinical practice.

Small scale changes of geochemistry and flow field due to transient heat storage in aquifers

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Bauer, S.; Boockmeyer, A.; Li, D.; Beyer, C.

2013-12-01

Heat exchangers in the subsurface are increasingly installed for transient heat storage due to the need of heating or cooling of buildings as well as the interim storage of heat to compensate for the temporally fluctuating energy production by wind or solar energy. For heat storage to be efficient, high temperatures must be achieved in the subsurface. Significant temporal changes of the soil and groundwater temperatures however effect both the local flow field by temperature dependent fluid parameters as well as reactive mass transport through temperature dependent diffusion coefficients, geochemical reaction rates and mineral equilibria. As the use of heat storage will be concentrated in urban areas, the use of the subsurface for (drinking) water supply and heat storage will typically coincide and a reliable prognosis of the processes occurring is needed. In the present work, the effects of a temporal variation of the groundwater temperature, as induced by a local heat exchanger introduced into a groundwater aquifer, are studied. For this purpose, the coupled non-isothermal groundwater flow, heat transport and reactive mass transport is simulated in the near filed of such a heat exchanger. By explicitly discretizing and incorporating the borehole, the borehole cementation and the heat exchanger tubes, a realistic geometrical and process representation is obtained. The numerical simulation code OpenGeoSys is used in this work, which incorporates the required processes of coupled groundwater flow, heat and mass transport as well as temperature dependent geochemistry. Due to the use of a Finite Element Method, a close representation of the geometric effects can be achieved. Synthetic scenario simulations for typical settings of salt water formations in northern Germany are used to investigate the geochemical effects arising from a high temperature heat storage by quantifying changes in groundwater chemistry and overall reaction rates. This work presents the

Exercise intolerance in Glycogen Storage Disease Type III

DEFF Research Database (Denmark)

Preisler, Nicolai; Pradel, Agnès; Husu, Edith

2013-01-01

Myopathic symptoms in Glycogen Storage Disease Type IIIa (GSD IIIa) are generally ascribed to the muscle wasting that these patients suffer in adult life, but an inability to debranch glycogen likely also has an impact on muscle energy metabolism. We hypothesized that patients with GSD IIIa can...

Human acid alpha-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II

NARCIS (Netherlands)

A.G.A. Bijvoet (Agnes); A.J.J. Reuser (Arnold); H. van Hirtum (Hans); M.A. Kroos (Marian); E.H. van de Kamp; O. Schoneveld; P. Visser (Pim); J.P. Brakenhoff (Just); M. Weggeman (Miranda); E.J.J.M. van Corven (Emiel); A.T. van der Ploeg (Ans)

1999-01-01

textabstractPompe's disease or glycogen storage disease type II (GSDII) belongs to the family of inherited lysosomal storage diseases. The underlying deficiency of acid alpha-glucosidase leads in different degrees of severity to glycogen storage in heart, skeletal

Storage time of transfused blood and disease recurrence after colorectal cancer surgery

DEFF Research Database (Denmark)

Mynster, T; Nielsen, Hans Jørgen

2001-01-01

of the transfused blood. Therefore, we studied the relationship between blood storage time and the development of disease recurrence and long-term survival after colorectal cancer surgery. METHODS: Preoperative and postoperative data were prospectively recorded in 740 patients undergoing elective resection...... for primary colorectal cancer. None of the patients received preoperative or postoperative chemotherapy or radiation therapy. Endpoints were overall survival and disease recurrence in the subgroup of patients operated on with curative intention who also survived the first 30 days after operation. Storage......BACKGROUND: Perioperative blood transfusion and subsequent development of postoperative infectious complications may lead to poor prognosis of patients with colorectal cancer. It has been suggested that the development of postoperative infectious complications may be related to the storage time...

Fulminant lipid storage myopathy due to multiple acyl-coenzyme a dehydrogenase deficiency.

Science.gov (United States)

Whitaker, Charles H; Felice, Kevin J; Silvers, David; Wu, Qian

2015-08-01

The lipid storage myopathies, primary carnitine deficiency, neutral lipid storage disease, and multiple acyl coenzyme A dehydrogenase deficiency (MADD), are progressive disorders that cause permanent weakness. These disorders of fatty acid metabolism and intracellular triglyceride degradation cause marked fat deposition and damage to muscle cells. We describe a rapidly progressive myopathy in a previously healthy 33-year-old woman. Over 4 months, she developed a proximal and axial myopathy associated with diffuse myalgia and dysphagia, ultimately leading to respiratory failure and death. Muscle biopsy showed massive accumulation of lipid. Plasma acylcarnitine and urine organic acid analysis was consistent with MADD. This was confirmed by molecular genetic testing, which revealed 2 pathogenic mutations in the ETFDH gene. This report illustrates a late-onset case of MADD and reviews the differential diagnosis and evaluation of patients with proximal myopathy and excessive accumulation of lipid on muscle biopsy. © 2014 Wiley Periodicals, Inc.

Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease

NARCIS (Netherlands)

A.G.A. Bijvoet (Agnes); A.T. van der Ploeg (Ans); E.H. van de Kamp; M.A. Kroos (Marian); J.-H. Ding (Jia-Huan); B.Z. Yang (Bing); P. Visser (Pim); C.E. Bakker (Cathy); M.Ph. Verbeet (Martin); B.A. Oostra (Ben); A.J.J. Reuser (Arnold)

1998-01-01

textabstractGlycogen storage disease type II (GSDII; Pompe disease), caused by inherited deficiency of acid alpha-glucosidase, is a lysosomal disorder affecting heart and skeletal muscles. A mouse model of this disease was obtained by targeted disruption of the

A novel mutation in PNPLA2 leading to neutral lipid storage disease with myopathy.

Science.gov (United States)

Ash, Daniel B; Papadimitriou, Dimitra; Hays, Arthur P; Dimauro, Salvatore; Hirano, Michio

2012-09-01

Mutations in PNPLA2, a gene encoding adipose triglyceride lipase, lead to neutral lipid storage disease with myopathy. To report the clinical and molecular features of a case of neutral lipid storage disease with myopathy resulting from a novel mutation in PNPLA2. Case report. University hospital. A 65-year-old man with progressive muscle weakness and high serum creatine kinase levels. Direct sequencing of the PNPLA2 gene. Identification of a novel homozygous mutation in the patient's PNPLA2 gene confirmed the suspected diagnosis of neutral lipid storage disease with myopathy. Screening of the PNPLA2 gene should be considered for patients presenting with high levels of creatine kinase, progressive muscle weakness, and systemic lipid accumulation. The presence of Jordans anomaly can be a strong diagnostic clue.

Iron storage disease (hemochromatosis) and hepcidin response to iron load in two species of pteropodid fruit bats relative to the common vampire bat.

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Stasiak, Iga M; Smith, Dale A; Ganz, Tomas; Crawshaw, Graham J; Hammermueller, Jutta D; Bienzle, Dorothee; Lillie, Brandon N

2018-07-01

Hepcidin is the key regulator of iron homeostasis in the body. Iron storage disease (hemochromatosis) is a frequent cause of liver disease and mortality in captive Egyptian fruit bats (Rousettus aegyptiacus), but reasons underlying this condition are unknown. Hereditary hemochromatosis in humans is due to deficiency of hepcidin or resistance to the action of hepcidin. Here, we investigated the role of hepcidin in iron metabolism in one species of pteropodid bat that is prone to iron storage disease [Egyptian fruit bat (with and without hemochromatosis)], one species of pteropodid bat where iron storage disease is rare [straw-colored fruit bat (Eidolon helvum)], and one species of bat with a natural diet very high in iron, in which iron storage disease is not reported [common vampire bat (Desmodus rotundus)]. Iron challenge via intramuscular injection of iron dextran resulted in significantly increased liver iron content and histologic iron scores in all three species, and increased plasma iron in Egyptian fruit bats and straw-colored fruit bats. Hepcidin mRNA expression increased in response to iron administration in healthy Egyptian fruit bats and common vampire bats, but not in straw-colored fruit bats or Egyptian fruit bats with hemochromatosis. Hepcidin gene expression significantly correlated with liver iron content in Egyptian fruit bats and common vampire bats, and with transferrin saturation and plasma ferritin concentration in Egyptian fruit bats. Induction of hepcidin gene expression in response to iron challenge is absent in straw-colored fruit bats and in Egyptian fruit bats with hemochromatosis and, relative to common vampire bats and healthy humans, is low in Egyptain fruit bats without hemochromatosis. Limited hepcidin response to iron challenge may contribute to the increased susceptibility of Egyptian fruit bats to iron storage disease.

Late-Onset Glycogen Storage Disease Type II (Pompe's Disease) with a Novel Mutation: A Malaysian Experience.

Science.gov (United States)

Fu Liong, Hiew; Abdul Wahab, Siti Aishah; Yakob, Yusnita; Lock Hock, Ngu; Thong, Wong Kum; Viswanathan, Shanthi

2014-01-01

Pompe's disease (acid maltase deficiency, glycogen storage disease type II) is an autosomal recessive disorder caused by a deficiency of lysosomal acid α-1,4-glucosidase, resulting in excessive accumulation of glycogen in the lysosomes and cytoplasm of all tissues, most notably in skeletal muscles. We present a case of adult-onset Pompe's disease with progressive proximal muscles weakness over 5 years and respiratory failure on admission, requiring prolonged mechanical ventilation. Electromyography showed evidence of myopathic process with small amplitudes, polyphasic motor unit action potentials, and presence of pseudomyotonic discharges. Muscle biopsy showed glycogen-containing vacuoles in the muscle fibers consistent with glycogen storage disease. Genetic analysis revealed two compound heterozygous mutations at c.444C>G (p.Tyr148∗) in exon 2 and c.2238G>C (p.Trp746Cys) in exon 16, with the former being a novel mutation. This mutation has not been reported before, to our knowledge. The patient was treated with high protein diet during the admission and subsequently showed good clinical response to enzyme replacement therapy with survival now to the eighth year. Conclusion. In patients with late-onset adult Pompe's disease, careful evaluation and early identification of the disease and its treatment with high protein diet and enzyme replacement therapy improve muscle function and have beneficial impact on long term survival.

Dietary Management of the Ketogenic Glycogen Storage Diseases

Directory of Open Access Journals (Sweden)

Kaustuv Bhattacharya MBBS, MRCPCH, FRACP, MD

2016-08-01

Full Text Available The glycogen storage diseases (GSDs comprise a group of rare inherited disorders of glycogen metabolism. The hepatic glycogenolytic forms of these disorders are typically associated with hypoglycemia and hepatomegaly. For GSD I, secondary metabolic disturbances include fasting hyperlactatemia, hyperuricemia, and hyperlipidemia. Glycogen storage disease III is caused by reduced activity of the debrancher enzyme, GSD VI by phosphorylase, and GSD IX by phosphorylase kinase. It has often been reported that the non-GSD I group of disorders have a benign course. However, myopathy, cardiomyopathy, and cirrhosis have been reported significant clinical morbidities associated with GSD III and IX in particular. There have been a range of reports indicating high-protein diets, high-fat diets, medium chain triglyceride (MCT, modified Atkins diet, and therapeutic ketones as rescuing severe phenotypes of GSD III in particular. The etiology of these severe phenotypes has not been defined. Cases presented in this report indicate potential harm from excessive simple sugar use in GSD IX C. Review of the literature indicates that most interventions have reduced the glycemic load and provide alternate substrates for energy in rescue situations. Prevention of complications is most likely to occur with a mixed balanced low glycemic index diet potentially with relative increases in protein.

CNS-directed gene therapy for lysosomal storage diseases

OpenAIRE

Sands, Mark S; Haskins, Mark E

2008-01-01

Lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders usually caused by deficient activity of a single lysosomal enzyme. As most lysosomal enzymes are ubiquitously expressed, a deficiency in a single enzyme can affect multiple organ systems, including the central nervous system (CNS). At least 75% of all LSDs have a significant CNS component. Approaches such as bone marrow transplantation (BMT) or enzyme replacement therapy (ERT) can effectively treat the systemic dis...

Testosterone-dependent sex differences in red blood cell hemolysis in storage, stress, and disease.

Science.gov (United States)

Kanias, Tamir; Sinchar, Derek; Osei-Hwedieh, David; Baust, Jeffrey J; Jordan, Andrew; Zimring, James C; Waterman, Hayley R; de Wolski, Karen S; Acker, Jason P; Gladwin, Mark T

2016-10-01

Red blood cell (RBC) hemolysis represents an intrinsic mechanism for human vascular disease. Intravascular hemolysis releases hemoglobin and other metabolites that inhibit nitric oxide signaling and drive oxidative and inflammatory stress. Although these pathways are important in disease pathogenesis, genetic and population modifiers of hemolysis, including sex, have not been established. We studied sex differences in storage or stress-induced hemolysis in RBC units from the United States and Canada in 22 inbred mouse strains and in patients with sickle cell disease (SCD) using measures of hemolysis in 315 patients who had homozygous SS hemoglobin from the Walk-PHASST cohort. A mouse model also was used to evaluate posttransfusion recovery of stored RBCs, and gonadectomy was used to determine the mechanisms related to sex hormones. An analysis of predisposition to hemolysis based on sex revealed that male RBCs consistently exhibit increased susceptibility to hemolysis compared with females in response to routine cold storage, under osmotic or oxidative stress, after transfusion in mice, and in patients with SCD. The sex difference is intrinsic to the RBC and is not mediated by plasmatic factors or female sex hormones. Importantly, orchiectomy in mice improves RBC storage stability and posttransfusion recovery, whereas testosterone repletion therapy exacerbates hemolytic response to osmotic or oxidative stress. Our findings suggest that testosterone increases susceptibility to hemolysis across human diseases, suggesting that male sex may modulate clinical outcomes in blood storage and SCD and establishing a role for donor genetic variables in the viability of stored RBCs and in human hemolytic diseases. © 2016 AABB.

Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy

NARCIS (Netherlands)

Platt, F. M.; Jeyakumar, M.; Andersson, U.; Priestman, D. A.; Dwek, R. A.; Butters, T. D.; Cox, T. M.; Lachmann, R. H.; Hollak, C.; Aerts, J. M.; van Weely, S.; Hrebícek, M.; Moyses, C.; Gow, I.; Elstein, D.; Zimran, A.

2001-01-01

The glycosphingolipid (GSL) lysosomal storage diseases are caused by mutations in the genes encoding the glycohydrolases that catabolize GSLs within lysosomes. In these diseases the substrate for the defective enzyme accumulates in the lysosome and the stored GSL leads to cellular dysfunction and

Pulmonary Arterial Hypertension in Glycogen Storage Disease Type I

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Rachel D. Torok MD

2017-05-01

Full Text Available Pulmonary arterial hypertension (PAH is a rare and highly fatal disease that has been reported in 8 patients with glycogen storage disease type I (GSDI. We describe an additional case of an acute presentation of PAH in a 14-year-old patient with GSDI, which was successfully treated with inhaled nitric oxide and sildenafil. We investigated the incidence of PAH in 28 patients with GSDI on routine echocardiography and found no evidence of PAH and no significant cardiac abnormalities. This study highlights that PAH is a rare disease overall, but our case report and those previously described suggest an increased incidence in patients with GSDI. Should cardiopulmonary symptoms develop, clinicians caring for patients with GSDI should have a high degree of suspicion for acute PAH and recognize that prompt intervention can lead to survival in this otherwise highly fatal disease.

Lipid Involvement in Neurodegenerative Diseases of the Motor System: Insights from Lysosomal Storage Diseases.

Science.gov (United States)

Dodge, James C

2017-01-01

Lysosomal storage diseases (LSDs) are a heterogeneous group of rare inherited metabolic diseases that are frequently triggered by the accumulation of lipids inside organelles of the endosomal-autophagic-lysosomal system (EALS). There is now a growing realization that disrupted lysosomal homeostasis (i.e., lysosomal cacostasis) also contributes to more common neurodegenerative disorders such as Parkinson disease (PD). Lipid deposition within the EALS may also participate in the pathogenesis of some additional neurodegenerative diseases of the motor system. Here, I will highlight the lipid abnormalities and clinical manifestations that are common to LSDs and several diseases of the motor system, including amyotrophic lateral sclerosis (ALS), atypical forms of spinal muscular atrophy, Charcot-Marie-Tooth disease (CMT), hereditary spastic paraplegia (HSP), multiple system atrophy (MSA), PD and spinocerebellar ataxia (SCA). Elucidating the underlying basis of intracellular lipid mislocalization as well as its consequences in each of these disorders will likely provide innovative targets for therapeutic research.

Late-Onset Glycogen Storage Disease Type II (Pompe’s Disease with a Novel Mutation: A Malaysian Experience

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Hiew Fu Liong

2014-01-01

Full Text Available Pompe’s disease (acid maltase deficiency, glycogen storage disease type II is an autosomal recessive disorder caused by a deficiency of lysosomal acid α-1,4-glucosidase, resulting in excessive accumulation of glycogen in the lysosomes and cytoplasm of all tissues, most notably in skeletal muscles. We present a case of adult-onset Pompe’s disease with progressive proximal muscles weakness over 5 years and respiratory failure on admission, requiring prolonged mechanical ventilation. Electromyography showed evidence of myopathic process with small amplitudes, polyphasic motor unit action potentials, and presence of pseudomyotonic discharges. Muscle biopsy showed glycogen-containing vacuoles in the muscle fibers consistent with glycogen storage disease. Genetic analysis revealed two compound heterozygous mutations at c.444C>G (p.Tyr148* in exon 2 and c.2238G>C (p.Trp746Cys in exon 16, with the former being a novel mutation. This mutation has not been reported before, to our knowledge. The patient was treated with high protein diet during the admission and subsequently showed good clinical response to enzyme replacement therapy with survival now to the eighth year. Conclusion. In patients with late-onset adult Pompe’s disease, careful evaluation and early identification of the disease and its treatment with high protein diet and enzyme replacement therapy improve muscle function and have beneficial impact on long term survival.

Storage time of transfused blood and disease recurrence after colorectal cancer surgery

DEFF Research Database (Denmark)

Mynster, T; Nielsen, Hans Jørgen

2001-01-01

of the transfused blood. Therefore, we studied the relationship between blood storage time and the development of disease recurrence and long-term survival after colorectal cancer surgery. METHODS: Preoperative and postoperative data were prospectively recorded in 740 patients undergoing elective resection......BACKGROUND: Perioperative blood transfusion and subsequent development of postoperative infectious complications may lead to poor prognosis of patients with colorectal cancer. It has been suggested that the development of postoperative infectious complications may be related to the storage time...... transfused patients (P = 0.004). The survival of patients receiving blood exclusively stored blood stored > or = 21 days, survival was 3.7 years (P = 0.12). Among patients with curative resection (n = 532), the hazard ratio of disease recurrence was 1.5 (95...

Disease Modeling and Gene Therapy of Copper Storage Disease in Canine Hepatic Organoids

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Sathidpak Nantasanti

2015-11-01

Full Text Available The recent development of 3D-liver stem cell cultures (hepatic organoids opens up new avenues for gene and/or stem cell therapy to treat liver disease. To test safety and efficacy, a relevant large animal model is essential but not yet established. Because of its shared pathologies and disease pathways, the dog is considered the best model for human liver disease. Here we report the establishment of a long-term canine hepatic organoid culture allowing undifferentiated expansion of progenitor cells that can be differentiated toward functional hepatocytes. We show that cultures can be initiated from fresh and frozen liver tissues using Tru-Cut or fine-needle biopsies. The use of Wnt agonists proved important for canine organoid proliferation and inhibition of differentiation. Finally, we demonstrate that successful gene supplementation in hepatic organoids of COMMD1-deficient dogs restores function and can be an effective means to cure copper storage disease.

Estimating Global Burden of Disease due to congenital anomaly

DEFF Research Database (Denmark)

Boyle, Breidge; Addor, Marie-Claude; Arriola, Larraitz

2018-01-01

OBJECTIVE: To validate the estimates of Global Burden of Disease (GBD) due to congenital anomaly for Europe by comparing infant mortality data collected by EUROCAT registries with the WHO Mortality Database, and by assessing the significance of stillbirths and terminations of pregnancy for fetal...... the burden of disease due to congenital anomaly, and thus declining YLL over time may obscure lack of progress in primary, secondary and tertiary prevention....

Exercise in muscle glycogen storage diseases.

Science.gov (United States)

Preisler, Nicolai; Haller, Ronald G; Vissing, John

2015-05-01

Glycogen storage diseases (GSD) are inborn errors of glycogen or glucose metabolism. In the GSDs that affect muscle, the consequence of a block in skeletal muscle glycogen breakdown or glucose use, is an impairment of muscular performance and exercise intolerance, owing to 1) an increase in glycogen storage that disrupts contractile function and/or 2) a reduced substrate turnover below the block, which inhibits skeletal muscle ATP production. Immobility is associated with metabolic alterations in muscle leading to an increased dependence on glycogen use and a reduced capacity for fatty acid oxidation. Such changes may be detrimental for persons with GSD from a metabolic perspective. However, exercise may alter skeletal muscle substrate metabolism in ways that are beneficial for patients with GSD, such as improving exercise tolerance and increasing fatty acid oxidation. In addition, a regular exercise program has the potential to improve general health and fitness and improve quality of life, if executed properly. In this review, we describe skeletal muscle substrate use during exercise in GSDs, and how blocks in metabolic pathways affect exercise tolerance in GSDs. We review the studies that have examined the effect of regular exercise training in different types of GSD. Finally, we consider how oral substrate supplementation can improve exercise tolerance and we discuss the precautions that apply to persons with GSD that engage in exercise.

Cholesteryl ester storage disease: a rare and possibly treatable cause of premature vascular disease and cirrhosis.

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Reynolds, Tim

2013-11-01

Cholesteryl ester storage disease (CESD) is an autosomal recessive lysosomal storage disorder caused by a variety of mutations of the LIPA gene. These cause reduced activity of lysosomal acid lipase, which results in accumulation of cholesteryl esters in lysosomes. If enzyme activity is very low/absent, presentation is in infancy with failure to thrive, malabsorption, hepatosplenomegaly and rapid early death (Wolman disease). With higher but still low enzyme activity, presentation is later in life with hepatic fibrosis, dyslipidaemia and early atherosclerosis.Identification of this rare disorder is difficult as it is essential to assay leucocyte acid phosphatase activity. An assay using specific inhibitors has now been developed that facilitates measurement in dried blood spots. Treatment of CESD has until now been limited to management of the dyslipidaemia, but this does not influence the liver effects. A new enzyme replacement therapy (Sebelipase) has now been developed that could change treatment options for the future.

Use of deferiprone for the treatment of hepatic iron storage disease in three hornbills.

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Sandmeier, Peter; Clauss, Marcus; Donati, Olivio F; Chiers, Koen; Kienzle, Ellen; Hatt, Jean-Michel

2012-01-01

3 hornbills (2 Papua hornbills [Aceros plicatus] and 1 longtailed hornbill [Tockus albocristatus]) were evaluated because of general listlessness and loss of feather glossiness. Because hepatic iron storage disease was suspected, liver biopsy was performed and formalin-fixed liver samples were submitted for histologic examination and quantitative image analysis (QIA). Additional frozen liver samples were submitted for chemical analysis. Birds also underwent magnetic resonance imaging (MRI) under general anesthesia for noninvasive measurement of liver iron content. Serum biochemical analysis and analysis of feed were also performed. Results of diagnostic testing indicated that all 3 hornbills were affected with hepatic iron storage disease. The iron chelator deferiprone was administered (75 mg/kg [34.1 mg/lb], PO, once daily for 90 days). During the treatment period, liver biopsy samples were obtained at regular intervals for QIA and chemical analysis of the liver iron content and follow-up MRI was performed. In all 3 hornbills, a rapid and large decrease in liver iron content was observed. All 3 methods for quantifying the liver iron content were able to verify the decrease in liver iron content. Orally administered deferiprone was found to effectively reduce the liver iron content in these 3 hornbills with iron storage disease. All 3 methods used to monitor the liver iron content (QIA, chemical analysis of liver biopsy samples, and MRI) had similar results, indicating that all of these methods should be considered for the diagnosis of iron storage disease and monitoring of liver iron content during treatment.

Muscular glycogen storage diseases without increased glycogen content on histoplathological examination

NARCIS (Netherlands)

Hoeksma, M.; den Dunnen, W. F. A.; Niezen-Koning, K. E.; van Diggelen, O. P.; van Spronsen, F. J.

Histopathological findings of muscle biopsies from five patients with two different muscular glycogen storage diseases (mGSD) were presented. From these investigations it emerged that the yield of histopathology in mGSD is low. In only one of five patients histopathological findings gave a clue

Degradation of Multimode Adhesive System Bond Strength to Artificial Caries-Affected Dentin Due to Water Storage.

Science.gov (United States)

Follak, A C; Miotti, L L; Lenzi, T L; Rocha, R O; Soares, F Z

The purpose of this study was to evaluate the influence of water storage on bond strength of multimode adhesive systems to artificially induced caries-affected dentin. One hundred twelve sound bovine incisors were randomly assigned to 16 groups (n=7) according to the dentin condition (sound; SND, artificially induced caries-affected dentin; CAD, cariogenic challenge by pH cycling for 14 days); the adhesive system (SU, Scotchbond Universal Adhesive; AB, All-Bond Universal; PB, Prime & Bond Elect; SB, Adper Single Bond 2; and CS, Clearfil SE Bond), and the etching strategy (etch-and-rinse and self-etch). All adhesive systems were applied under manufacturer's instructions to flat dentin surfaces, and a composite block was built up on each dentin surface. After 24 hours of water storage, the specimens were sectioned into stick-shaped specimens (0.8 mm 2 ) and submitted to a microtensile test immediately (24 hours) or after six months of water storage. Bond strength data (MPa) were analyzed using three-way repeated-measures analysis of variance and post hoc Tukey test (α=5%), considering each substrate separately (SND and CAD). The etching strategy did not influence the bond strength of multimode adhesives, irrespective of the dentin condition. Water storage only reduced significantly the bond strength to CAD. The degradation of bond strength due to water storage was more pronounced in CAD, regardless of the etching strategy.

Restarting stalled autophagy a potential therapeutic approach for the lipid storage disorder, Niemann-Pick type C1 disease.

Science.gov (United States)

Sarkar, Sovan; Maetzel, Dorothea; Korolchuk, Viktor I; Jaenisch, Rudolf

2014-06-01

Autophagy is essential for cellular homeostasis and its dysfunction in human diseases has been implicated in the accumulation of misfolded protein and in cellular toxicity. We have recently shown impairment in autophagic flux in the lipid storage disorder, Niemann-Pick type C1 (NPC1) disease associated with abnormal cholesterol sequestration, where maturation of autophagosomes is impaired due to defective amphisome formation caused by failure in SNARE machinery. Abrogation of autophagy also causes cholesterol accumulation, suggesting that defective autophagic flux in NPC1 disease may act as a primary causative factor not only by imparting its deleterious effects, but also by increasing cholesterol load. However, cholesterol depletion treatment with HP-β-cyclodextrin impedes autophagy, whereas pharmacologically stimulating autophagy restores its function independent of amphisome formation. Of potential therapeutic relevance is that a low dose of HP-β-cyclodextrin that does not perturb autophagy, coupled with an autophagy inducer, may rescue both the cholesterol and autophagy defects in NPC1 disease.

Glycogen storage disease type I: clinical and laboratory profile

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Berenice L. Santos

2014-12-01

Full Text Available OBJECTIVES: To characterize the clinical, laboratory, and anthropometric profile of a sample of Brazilian patients with glycogen storage disease type I managed at an outpatient referral clinic for inborn errors of metabolism. METHODS: This was a cross-sectional outpatient study based on a convenience sampling strategy. Data on diagnosis, management, anthropometric parameters, and follow-up were assessed. RESULTS: Twenty-one patients were included (median age 10 years, range 1-25 years, all using uncooked cornstarch therapy. Median age at diagnosis was 7 months (range, 1-132 months, and 19 patients underwent liver biopsy for diagnostic confirmation. Overweight, short stature, hepatomegaly, and liver nodules were present in 16 of 21, four of 21, nine of 14, and three of 14 patients, respectively. A correlation was found between height-for-age and BMI-for-age Z-scores (r = 0.561; p = 0.008. CONCLUSIONS: Diagnosis of glycogen storage disease type I is delayed in Brazil. Most patients undergo liver biopsy for diagnostic confirmation, even though the combination of a characteristic clinical presentation and molecular methods can provide a definitive diagnosis in a less invasive manner. Obesity is a side effect of cornstarch therapy, and appears to be associated with growth in these patients.

Exercise in muscle glycogen storage diseases

DEFF Research Database (Denmark)

Preisler, Nicolai Rasmus; Haller, Ronald G; Vissing, John

2015-01-01

exercise program has the potential to improve general health and fitness and improve quality of life, if executed properly. In this review, we describe skeletal muscle substrate use during exercise in GSDs, and how blocks in metabolic pathways affect exercise tolerance in GSDs. We review the studies...... that have examined the effect of regular exercise training in different types of GSD. Finally, we consider how oral substrate supplementation can improve exercise tolerance and we discuss the precautions that apply to persons with GSD that engage in exercise.......Glycogen storage diseases (GSD) are inborn errors of glycogen or glucose metabolism. In the GSDs that affect muscle, the consequence of a block in skeletal muscle glycogen breakdown or glucose use, is an impairment of muscular performance and exercise intolerance, owing to 1) an increase...

Modeling deformation processes of salt caverns for gas storage due to fluctuating operation pressures

Science.gov (United States)

Böttcher, N.; Nagel, T.; Goerke, U.; Khaledi, K.; Lins, Y.; König, D.; Schanz, T.; Köhn, D.; Attia, S.; Rabbel, W.; Bauer, S.; Kolditz, O.

2013-12-01

In the course of the Energy Transition in Germany, the focus of the country's energy sources is shifting from fossil to renewable and sustainable energy carriers. Since renewable energy sources, such as wind and solar power, are subjected to annual, seasonal, and diurnal fluctuations, the development and extension of energy storage capacities is a priority in German R&D programs. Common methods of energy storage are the utilization of subsurface caverns as a reservoir for natural or artificial fuel gases, such as hydrogen, methane, or the storage of compressed air. The construction of caverns in salt rock is inexpensive in comparison to solid rock formations due to the possibility of solution mining. Another advantage of evaporite as a host material is the self-healing capacity of salt rock. Gas caverns are capable of short-term energy storage (hours to days), so the operating pressures inside the caverns are fluctuating periodically with a high number of cycles. This work investigates the influence of fluctuating operation pressures on the stability of the host rock of gas storage caverns utilizing numerical models. Therefore, we developed a coupled Thermo-Hydro-Mechanical (THM) model based on the finite element method utilizing the open-source software platform OpenGeoSys. Our simulations include the thermodynamic behaviour of the gas during the loading/ unloading of the cavern. This provides information on the transient pressure and temperature distribution on the cavern boundary to calculate the deformation of its geometry. Non-linear material models are used for the mechanical analysis, which describe the creep and self-healing behavior of the salt rock under fluctuating loading pressures. In order to identify the necessary material parameters, we perform experimental studies on the mechanical behaviour of salt rock under varying pressure and temperature conditions. Based on the numerical results, we further derive concepts for monitoring THM quantities in the

Fusion of lysosomes with secretory organelles leads to uncontrolled exocytosis in the lysosomal storage disease mucolipidosis type IV.

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Park, Soonhong; Ahuja, Malini; Kim, Min Seuk; Brailoiu, G Cristina; Jha, Archana; Zeng, Mei; Baydyuk, Maryna; Wu, Ling-Gang; Wassif, Christopher A; Porter, Forbes D; Zerfas, Patricia M; Eckhaus, Michael A; Brailoiu, Eugen; Shin, Dong Min; Muallem, Shmuel

2016-02-01

Mutations in TRPML1 cause the lysosomal storage disease mucolipidosis type IV (MLIV). The role of TRPML1 in cell function and how the mutations cause the disease are not well understood. Most studies focus on the role of TRPML1 in constitutive membrane trafficking to and from the lysosomes. However, this cannot explain impaired neuromuscular and secretory cells' functions that mediate regulated exocytosis. Here, we analyzed several forms of regulated exocytosis in a mouse model of MLIV and, opposite to expectations, we found enhanced exocytosis in secretory glands due to enlargement of secretory granules in part due to fusion with lysosomes. Preliminary exploration of synaptic vesicle size, spontaneous mEPSCs, and glutamate secretion in neurons provided further evidence for enhanced exocytosis that was rescued by re-expression of TRPML1 in neurons. These features were not observed in Niemann-Pick type C1. These findings suggest that TRPML1 may guard against pathological fusion of lysosomes with secretory organelles and suggest a new approach toward developing treatment for MLIV. © 2015 The Authors.

Symptomatic lipid storage in carriers for the PNPLA2 gene.

Science.gov (United States)

Janssen, Mirian C H; van Engelen, Baziel; Kapusta, Livia; Lammens, Martin; van Dijk, Martin; Fischer, Judith; van der Graaf, Marinette; Wevers, Ron A; Fahrleitner, Manuela; Zimmermann, Robert; Morava, Eva

2013-08-01

Neutral lipid storage disease comprises a heterogeneous group of inherited disorders characterized by severe accumulation of cytoplasmic triglyceride droplets in several tissues and neutrophils. A novel type of autosomal recessive lipid myopathy due to PNPLA2 mutations was recently described with associated cardiac disease, myopathy and frequent infections, but without ichthyosis. Here we describe the clinical and biochemical characteristics of a long surviving patient and report on four carrier family members with diverse clinical involvement. Interestingly, heterozygous patients show neutral lipid storage in muscle and in the keratocytes of the skin, Jordans' bodies, mild myopathy and frequent infections. Biochemical analysis of fibroblasts obtained from patients revealed increased triglyceride storage and reduced lipid droplet-associated triglyceride hydrolase activity. Together, our data implicate that the wild-type allele cannot fully compensate for the mutated dysfunctional allele of PNPLA2 leading to triglyceride accumulation in muscle and mild myopathy in PNPLA2 mutation carriers. The presence of neutral lipid droplets in the skin in PNPLA2 mutation carriers strengthens the link between NLSD and other neutral lipid storage diseases with ichthyosis.

Microbial Profile of Supragingival and Subgingival Plaque of Patients With Glycogen Storage Disease

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Chealsea E. Garcia DDS, MS

2016-12-01

Full Text Available Patients with glycogen storage disease (GSD are either orally fed (ORF or gastronomy-tube fed (GTF with cornstarch to maintain normal glucose levels. It is not known whether the use of cornstarch affects the microbiological oral profile of patients with GSD. Thus, the purpose of this study was to compare supragingival and subgingival plaque samples collected from 53 participants with GSD (2-56 years—29 ORF and 24 GTF. The 16S sequence bacterial profiles of plaque DNA were obtained and a total of 768 probes were detected across the plaque groups. Orally fed patients showed higher means of cariogenic species and periodontal health-associated species, whereas GTF patients showed higher means of periopathogenic species ( P < .05. Orally fed patients exhibited high levels of caries pathogens and lower levels of periodontal pathogens possibly due to the acidic environment created by their cornstarch diet, when compared to GTF patients.

Imaging of chest disease due to intravenous heroin abuse

International Nuclear Information System (INIS)

Lian Xuhui; Chen Zhong; Ye Wenqin

2002-01-01

Objective: To study the imaging findings of the chest disease due to intravenous heroin abuse. Methods: Twenty-five cases of clinically confirmed chest disease due to intravenous heroin abuse were retrospectively analyzed. 25 cases had conventional X-ray film, 6 cases had CT scanning, and 6 cases had echocardiography scanning. Results: On X-ray and CT, the following signs were found: lung making manifold (n = 5), small patchy shadow (n = 15), pneumatocele (n = 16), small cavity (n = 16), small node (n = 7), pleural effusion (n = 8 ), pneumothorax (n = 2), hydropneumothorax (n = 6), pulmonary edema (n = 2), megacardia (n = 11), multiple-shaped lesion (n = 20). On echocardiography, tricuspid vegetation (n = 4) and tricuspid insufficiency (n = 4) were found. Conclusion: The X-ray and CT manifestations of chest inflammation due to intravenous heroin abuse are multiple. The multiple small cavities and pneumatoceles sign are of some value in the diagnosis of lung inflammation due to intravenous heroin abuse among young patients

Opposed-phase MR imaging of lipid storage myopathy in a case of Chanarin-Dorfman disease

International Nuclear Information System (INIS)

Gaeta, Michele; Celona, Antonio; Racchiusa, Sergio; Mazziotti, Silvio; Minutoli, Fabio; Toscano, Antonio; Musumeci, Olimpia

2008-01-01

Chanarin-Dorfman disease (CDD) is a rare genetic disorder characterized by ichthyosis, myopathy, central nervous system disturbances, and intracellular lipid storage in muscle fibers, hepatocytes, and granulocytes. We describe skeletal muscle magnetic resonance imaging findings in a case of CDD, outlining the potential role of GE T1-weighted opposed-phase sequence (chemical shift imaging) in the evaluation of lipid storage myopathies. (orig.)

Opposed-phase MR imaging of lipid storage myopathy in a case of Chanarin-Dorfman disease

Energy Technology Data Exchange (ETDEWEB)

Gaeta, Michele; Celona, Antonio; Racchiusa, Sergio; Mazziotti, Silvio [University of Messina, Department of Radiological Sciences, Messina (Italy); Minutoli, Fabio [University of Messina, Department of Radiological Sciences, Messina (Italy); A.O.U. ' ' Policlinico G. Martino' ' , Dipartimento di Scienze Radiologiche, Messina (Italy); Toscano, Antonio; Musumeci, Olimpia [University of Messina, Department of Neurosciences, Psychiatry and Anaesthesiology, Messina (Italy)

2008-11-15

Chanarin-Dorfman disease (CDD) is a rare genetic disorder characterized by ichthyosis, myopathy, central nervous system disturbances, and intracellular lipid storage in muscle fibers, hepatocytes, and granulocytes. We describe skeletal muscle magnetic resonance imaging findings in a case of CDD, outlining the potential role of GE T1-weighted opposed-phase sequence (chemical shift imaging) in the evaluation of lipid storage myopathies. (orig.)

A patient with common glycogen storage disease type Ib mutations without neutropenia or neutrophil dysfunction

NARCIS (Netherlands)

Martens, DHJ; Kuijpers, TW; Maianski, NA; Rake, JP; Smit, GPA; Visser, G

We describe a 16-year old boy with glycogen storage disease type Ib, homozygous for the common 1211-1212delCT mutation, who never experienced neutropenia, and did not suffer from frequent infections or inflammatory bowel disease. In addition, neutrophil function tests showed no abnormalities.

Economic losses due to important diseases of bovines in central India

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Dhananjay Singh

2014-08-01

Full Text Available Aim: To analyze the factors associated with morbidity and mortality rates as well as to evaluate economic losses due to important diseases of bovines, viz. mastitis, HS and surra in Purvanchal Region of Uttar Pradesh. Materials and Methods: A sample of 300 livestock owners were selected from each of five divisions of Purvanchal region of the state of Uttar Pradesh using multistage stratified sampling with simple random sampling without replacement at village level. The morbidity, mortality and case fatality rates due to different diseases were determined using standard statistical indices. Association between cattle morbidity and mortality rates and different factors was calculated by χ2 Test. The total economic loss due to diseases in bovines was worked out as sum of mortality loss, loss in milk yield and cost of treatment of affected animals. Results: The overall morbidity rates of mastitis, HS and surra in cattle and buffaloes were 15.5%, 7.1% and 5.3%, respectively. The mortality and case fatality due to HS was found higher in the young calves as compared to the adults in case of both buffaloes and cattle. Mortality and case fatality due to surra was greater in the adult animals as compared to the younger ones in case of both buffaloes and cattle. Total losses due to mastitis per lactation in ND cow, CB cow and buffalo were INR 868.34, INR 1, 314.10 and INR 1, 272.36, respectively. Total losses due to HS per animal in ND cows, CB cows and buffaloes were INR 2, 355.78, INR 3, 228.52 and INR 4, 262.57, respectively. Total losses due to surra per animal in ND cow, CB cow and buffalo were INR 3, 328.18, INR 6, 193 and INR 9, 872.33, respectively. Conclusion: The study thus revealed significant losses due to diseases in large ruminants on. There is thus ample scope for preventive measures to control the disease bovines.

Adiponectin levels correlate with the severity of hypertriglyceridaemia in glycogen storage disease Ia

NARCIS (Netherlands)

Bandsma, R. H. J.; Smit, G. P. A.; Reijngoud, D. -J.; Kuipers, F.

2009-01-01

Glycogen storage disease type Ia (GSD Ia) is characterized by severe hypercholesterolaemia and hypertriglyceridaemia. Little is known about the aetiology of the hyperlipidaemia in GSD Ia. Adipokines play an important regulatory role in lipid metabolism. We investigated whether adipokine

The National Institute on Aging Genetics of Alzheimer’s Disease Data Storage Site (NIAGADS)

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U.S. Department of Health & Human Services — The National Institute on Aging Genetics of Alzheimer's Disease Data Storage Site (NIAGADS) is a national genetics data repository facilitating access to genotypic...

Impaired Autophagy in the Lipid-Storage Disorder Niemann-Pick Type C1 Disease

OpenAIRE

Sarkar, Sovan; Carroll, Bernadette; Buganim, Yosef; Maetzel, Dorothea; Ng, Alex H.M.; Cassady, John P.; Cohen, Malkiel A.; Chakraborty, Souvik; Wang, Haoyi; Spooner, Eric; Ploegh, Hidde; Gsponer, Joerg; Korolchuk, Viktor I.; Jaenisch, Rudolf

2013-01-01

Autophagy dysfunction has been implicated in misfolded protein accumulation and cellular toxicity in several diseases. Whether alterations in autophagy also contribute to the pathology of lipid-storage disorders is not clear. Here, we show defective autophagy in Niemann-Pick type C1 (NPC1) disease associated with cholesterol accumulation, where the maturation of autophagosomes is impaired because of defective amphisome formation caused by failure in SNARE machinery, whereas the lysosomal prot...

Type IIIb glycogen storage disease associated with end-stage cirrhosis and hepatocellular carcinoma

NARCIS (Netherlands)

Haagsma, EB; Smit, GPA; NiezenKoning, KE; Gouw, ASH; Meerman, L; Slooff, MJH

Type III glycogen storage disease (GSD) is a disorder of carbohydrate metabolism caused by a deficiency of debranching enzyme. Different subtypes with different clinical pictures have been recognized. During childhood and early adulthood, the symptoms generally regress, and normal adulthood appears

Symptomatic lipid storage in carriers for the PNPLA2 gene

NARCIS (Netherlands)

Janssen, M.C.H.; Engelen, B.G.M. van; Kapusta, L.; Lammens, M.M.; Dijk, M.; Fischer, J.; Graaf, M. van der; Wevers, R.A.; Fahrleitner, M.; Zimmermann, R.; Morava, E.

2013-01-01

Neutral lipid storage disease comprises a heterogeneous group of inherited disorders characterized by severe accumulation of cytoplasmic triglyceride droplets in several tissues and neutrophils. A novel type of autosomal recessive lipid myopathy due to PNPLA2 mutations was recently described with

Common and uncommon pathogenic cascades in lysosomal storage diseases.

Science.gov (United States)

Vitner, Einat B; Platt, Frances M; Futerman, Anthony H

2010-07-02

Lysosomal storage diseases (LSDs), of which about 50 are known, are caused by the defective activity of lysosomal proteins, resulting in accumulation of unmetabolized substrates. As a result, a variety of pathogenic cascades are activated such as altered calcium homeostasis, oxidative stress, inflammation, altered lipid trafficking, autophagy, endoplasmic reticulum stress, and autoimmune responses. Some of these pathways are common to many LSDs, whereas others are only altered in a subset of LSDs. We now review how these cascades impact upon LSD pathology and suggest how intervention in the pathways may lead to novel therapeutic approaches.

Iron storage in liver, bone marrow and splenic Gaucheroma reflects residual disease in type 1 Gaucher disease patients on treatment.

Science.gov (United States)

Regenboog, Martine; Bohte, Anneloes E; Akkerman, Erik M; Stoker, Jaap; Hollak, Carla E M

2017-11-01

Gaucher disease (GD) is a lysosomal storage disorder characterized by the storage of glycosphingolipids in macrophages. Despite effective therapy, residual disease is present in varying degrees and may be associated with late complications, such as persistent bone or liver disease and increased cancer risk. Gaucher macrophages are capable of storing iron and locations of residual disease may thus be detectable with iron imaging. Forty type 1 GD (GD1) patients and 40 matched healthy controls were examined using a whole-body magnetic resonance imaging protocol consisting of standard sequences, allowing analysis of iron content per organ, expressed as R2* (Hz). Median R2* values were significantly elevated in GD1 patients as compared to healthy controls in liver [41 Hz (range 29-165) vs. 38 Hz (range 28-53), P Gaucher lesions known as Gaucheroma were found to have increased R2* values. R2* values of liver, spleen and vertebral bone marrow strongly correlated with serum ferritin levels. GD1 patients with persistent hyperferritinaemia demonstrate increased iron levels in liver and bone marrow, which may carry a risk for liver fibrosis and cancer. © 2017 John Wiley & Sons Ltd.

Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review.

Science.gov (United States)

Magoulas, Pilar L; El-Hattab, Ayman W; Roy, Angshumoy; Bali, Deeksha S; Finegold, Milton J; Craigen, William J

2012-06-01

Glycogen storage disease type IV is a rare autosomal recessive disorder of glycogen metabolism caused by mutations in the GBE1 gene that encodes the 1,4-alpha-glucan-branching enzyme 1. Its clinical presentation is variable, with the most common form presenting in early childhood with primary hepatic involvement. Histologic manifestations in glycogen storage disease type IV typically consist of intracytoplasmic non-membrane-bound inclusions containing abnormally branched glycogen (polyglucosan bodies) within hepatocytes and myocytes. We report a female infant with classic hepatic form of glycogen storage disease type IV who demonstrated diffuse reticuloendothelial system involvement with the spleen, bone marrow, and lymph nodes infiltrated by foamy histiocytes with intracytoplasmic polyglucosan deposits. Sequence analysis of the GBE1 gene revealed compound heterozygosity for a previously described frameshift mutation (c.1239delT) and a novel missense mutation (c.1279G>A) that is predicted to alter a conserved glycine residue. GBE enzyme analysis revealed no detectable activity. A review of the literature for glycogen storage disease type IV patients with characterized molecular defects and deficient enzyme activity reveals most GBE1 mutations to be missense mutations clustering in the catalytic enzyme domain. Individuals with the classic hepatic form of glycogen storage disease type IV tend to be compound heterozygotes for null and missense mutations. Although the extensive reticuloendothelial system involvement that was observed in our patient is not typical of glycogen storage disease type IV, it may be associated with severe enzymatic deficiency and a poor outcome. Copyright © 2012 Elsevier Inc. All rights reserved.

Magnetic resonance findings of the corpus callosum in canine and feline lysosomal storage diseases.

Science.gov (United States)

Hasegawa, Daisuke; Tamura, Shinji; Nakamoto, Yuya; Matsuki, Naoaki; Takahashi, Kimimasa; Fujita, Michio; Uchida, Kazuyuki; Yamato, Osamu

2013-01-01

Several reports have described magnetic resonance (MR) findings in canine and feline lysosomal storage diseases such as gangliosidoses and neuronal ceroid lipofuscinosis. Although most of those studies described the signal intensities of white matter in the cerebrum, findings of the corpus callosum were not described in detail. A retrospective study was conducted on MR findings of the corpus callosum as well as the rostral commissure and the fornix in 18 cases of canine and feline lysosomal storage diseases. This included 6 Shiba Inu dogs and 2 domestic shorthair cats with GM1 gangliosidosis; 2 domestic shorthair cats, 2 familial toy poodles, and a golden retriever with GM2 gangliosidosis; and 2 border collies and 3 chihuahuas with neuronal ceroid lipofuscinoses, to determine whether changes of the corpus callosum is an imaging indicator of those diseases. The corpus callosum and the rostral commissure were difficult to recognize in all cases of juvenile-onset gangliosidoses (GM1 gangliosidosis in Shiba Inu dogs and domestic shorthair cats and GM2 gangliosidosis in domestic shorthair cats) and GM2 gangliosidosis in toy poodles with late juvenile-onset. In contrast, the corpus callosum and the rostral commissure were confirmed in cases of GM2 gangliosidosis in a golden retriever and canine neuronal ceroid lipofuscinoses with late juvenile- to early adult-onset, but were extremely thin. Abnormal findings of the corpus callosum on midline sagittal images may be a useful imaging indicator for suspecting lysosomal storage diseases, especially hypoplasia (underdevelopment) of the corpus callosum in juvenile-onset gangliosidoses.

Magnetic resonance findings of the corpus callosum in canine and feline lysosomal storage diseases.

Directory of Open Access Journals (Sweden)

Daisuke Hasegawa

Full Text Available Several reports have described magnetic resonance (MR findings in canine and feline lysosomal storage diseases such as gangliosidoses and neuronal ceroid lipofuscinosis. Although most of those studies described the signal intensities of white matter in the cerebrum, findings of the corpus callosum were not described in detail. A retrospective study was conducted on MR findings of the corpus callosum as well as the rostral commissure and the fornix in 18 cases of canine and feline lysosomal storage diseases. This included 6 Shiba Inu dogs and 2 domestic shorthair cats with GM1 gangliosidosis; 2 domestic shorthair cats, 2 familial toy poodles, and a golden retriever with GM2 gangliosidosis; and 2 border collies and 3 chihuahuas with neuronal ceroid lipofuscinoses, to determine whether changes of the corpus callosum is an imaging indicator of those diseases. The corpus callosum and the rostral commissure were difficult to recognize in all cases of juvenile-onset gangliosidoses (GM1 gangliosidosis in Shiba Inu dogs and domestic shorthair cats and GM2 gangliosidosis in domestic shorthair cats and GM2 gangliosidosis in toy poodles with late juvenile-onset. In contrast, the corpus callosum and the rostral commissure were confirmed in cases of GM2 gangliosidosis in a golden retriever and canine neuronal ceroid lipofuscinoses with late juvenile- to early adult-onset, but were extremely thin. Abnormal findings of the corpus callosum on midline sagittal images may be a useful imaging indicator for suspecting lysosomal storage diseases, especially hypoplasia (underdevelopment of the corpus callosum in juvenile-onset gangliosidoses.

Magnetic Resonance Findings of the Corpus Callosum in Canine and Feline Lysosomal Storage Diseases

Science.gov (United States)

Hasegawa, Daisuke; Tamura, Shinji; Nakamoto, Yuya; Matsuki, Naoaki; Takahashi, Kimimasa; Fujita, Michio; Uchida, Kazuyuki; Yamato, Osamu

2013-01-01

Several reports have described magnetic resonance (MR) findings in canine and feline lysosomal storage diseases such as gangliosidoses and neuronal ceroid lipofuscinosis. Although most of those studies described the signal intensities of white matter in the cerebrum, findings of the corpus callosum were not described in detail. A retrospective study was conducted on MR findings of the corpus callosum as well as the rostral commissure and the fornix in 18 cases of canine and feline lysosomal storage diseases. This included 6 Shiba Inu dogs and 2 domestic shorthair cats with GM1 gangliosidosis; 2 domestic shorthair cats, 2 familial toy poodles, and a golden retriever with GM2 gangliosidosis; and 2 border collies and 3 chihuahuas with neuronal ceroid lipofuscinoses, to determine whether changes of the corpus callosum is an imaging indicator of those diseases. The corpus callosum and the rostral commissure were difficult to recognize in all cases of juvenile-onset gangliosidoses (GM1 gangliosidosis in Shiba Inu dogs and domestic shorthair cats and GM2 gangliosidosis in domestic shorthair cats) and GM2 gangliosidosis in toy poodles with late juvenile-onset. In contrast, the corpus callosum and the rostral commissure were confirmed in cases of GM2 gangliosidosis in a golden retriever and canine neuronal ceroid lipofuscinoses with late juvenile- to early adult-onset, but were extremely thin. Abnormal findings of the corpus callosum on midline sagittal images may be a useful imaging indicator for suspecting lysosomal storage diseases, especially hypoplasia (underdevelopment) of the corpus callosum in juvenile-onset gangliosidoses. PMID:24386203

Involvement of endocrine system in a patient affected by glycogen storage disease 1b: speculation on the role of autoimmunity.

Science.gov (United States)

Melis, Daniela; Della Casa, Roberto; Balivo, Francesca; Minopoli, Giorgia; Rossi, Alessandro; Salerno, Mariacarolina; Andria, Generoso; Parenti, Giancarlo

2014-03-19

Glycogen storage disease type 1b (GSD1b) is an inherited metabolic defect of glycogenolysis and gluconeogenesis due to mutations of the SLC37A4 gene and to defective transport of glucose-6-phosphate. The clinical presentation of GSD1b is characterized by hepatomegaly, failure to thrive, fasting hypoglycemia, and dyslipidemia. Patients affected by GSD1b also show neutropenia and/or neutrophil dysfunction that cause increased susceptibility to recurrent bacterial infections. GSD1b patients are also at risk for inflammatory bowel disease. Occasional reports suggesting an increased risk of autoimmune disorders in GSD1b patients, have been published. These complications affect the clinical outcome of the patients. Here we describe the occurrence of autoimmune endocrine disorders including thyroiditis and growth hormone deficiency, in a patient affected by GSD1b. This case further supports the association between GSD1b and autoimmune diseases.

Bone marrow transplantation in patients with storage diseases: a developing country experience

Directory of Open Access Journals (Sweden)

Lange Marcos C.

2006-01-01

Full Text Available Bone marrow transplantation (BMT is a therapeutic option for patients with genetic storage diseases. Between 1979 and 2002, eight patients, four females and four males (1 to 13 years old were submitted to this procedure in our center. Six patients had mucopolysaccharidosis (MPS I in 3; MPS III in one and MPS VI in 2, one had adrenoleukodystrophy (ALD and one had Gaucher disease. Five patients had related and three unrelated BMT donor. Three patients developed graft versus host disease (two MPS I and one MPS VI and died between 37 and 151 days after transplantation. Five patients survived 4 to 16 years after transplantation. Three patients improved (one MPS I; one MPS VI and the Gaucher disease patient, one patient had no disease progression (ALD and in one patient this procedure did not change the natural course of the disease (MPS III.

Osteochondritis dissecans (OCD), an endoplasmic reticulum storage disease?

DEFF Research Database (Denmark)

Skagen, Peter Storgaard; Horn, T; Kruse, H A

2011-01-01

Osteochondritis dissecans (OCD) fragments, cartilage and blood from four patients were used for morphological and molecular analysis. Controls included articular cartilage and blood samples from healthy individuals. Light microscopy and transmission electron microscopy (TEM) showed abnormalities...... in chondrocytes and extracellular matrix of cartilage from OCD patients. Abnormal type II collagen heterofibrils in "bundles" and chondrocytes with abnormal accumulation of matrix proteins in distended rough endoplasmic reticulum were typical findings. Further, Von Kossa staining and TEM showed empty lacunae...... polymorphism was found within the COL2A1 gene for one patient. We suggest that OCD lesions are caused by an alteration in chondrocyte matrix synthesis causing an endoplasmic reticulum storage disease phenotype, which disturbs or abrupts endochondral ossification....

Effect of gamma radiation treatment on some fungi causing storage diseases of banana fruits

International Nuclear Information System (INIS)

EL-Ashmawi, A.M.M.

1982-01-01

Banana is one of the most popular fruits in many tropical and sub-tropical countries. in recent years, the quality of egyptian banana markedly declined. A major factor contributing to this decline is the development of fruit rot, which is the most widely occurring disease either in the field or in storage. Different fungi attack banana fruits causing considerable losses. Most of the fungi responsible for post harvest rots of banana are usually carried from the field, on the surface of the fruit itself or in injured and rotting fruits causing severe rats during storage. These rots make the fruits difficult to handle and undesirable to the consumers. Botryodiplodia theobromae is known to be the most important pathogen responsible for the infection in storage

Farber's Disease

Science.gov (United States)

... management, and therapy of rare diseases, including the lipid storage diseases. Research on lipid storage diseases within the Network includes ... management, and therapy of rare diseases, including the lipid storage diseases. Research on lipid storage diseases within the Network includes ...

Glycogen Storage Disease Type Ia in Canines: A Model for Human Metabolic and Genetic Liver Disease

OpenAIRE

Specht, Andrew; Fiske, Laurie; Erger, Kirsten; Cossette, Travis; Verstegen, John; Campbell-Thompson, Martha; Struck, Maggie B.; Lee, Young Mok; Chou, Janice Y.; Byrne, Barry J.; Correia, Catherine E.; Mah, Cathryn S.; Weinstein, David A.; Conlon, Thomas J.

2011-01-01

A canine model of Glycogen storage disease type Ia (GSDIa) is described. Affected dogs are homozygous for a previously described M121I mutation resulting in a deficiency of glucose-6-phosphatase-α. Metabolic, clinicopathologic, pathologic, and clinical manifestations of GSDIa observed in this model are described and compared to those observed in humans. The canine model shows more complete recapitulation of the clinical manifestations seen in humans including “lactic acidosis”, larger size,...

Years of life lost due to infectious diseases in Poland

Science.gov (United States)

Bryla, Marek; Dziankowska-Zaborszczyk, Elzbieta; Bryla, Pawel; Pikala, Malgorzata

2017-01-01

Purpose An evaluation of mortality due to infectious diseases in Poland in 1999–2012 and an analysis of standard expected years of life lost due to the above diseases. Methods The study material included a database created on the basis of 5,219,205 death certificates of Polish inhabitants, gathered between 1999 and 2012 and provided by the Central Statistical Office. Crude Death Rates (CDR), Standardized Death Rates (SDR) and Standard Expected Years of Life Lost (SEYLL) due to infectious and parasitic diseases were also evaluated in the study period as well as Standard Expected Years of Life Lost per living person (SEYLLp) and Standard Expected Years of Life Lost per dead person (SEYLLd). Time trends were evaluated with the application of joinpoint models and an annual percentage change in their values. Results Death certificates report that 38,261 people died due to infectious diseases in Poland in the period 1999–2012, which made up 0.73% of the total number of deaths. SDR caused by these diseases decreased, particularly in the male group: Annual Percentage Change (APC = -1.05; 95% CI:-2.0 to -0.2; p<0.05). The most positive trends were observed in mortality caused by tuberculosis (A15-A19) (APC = -5.40; 95% CI:-6.3 to -4.5; p<0.05) and also meningitis, encephalitis, myelitis and encephalomyelitis (G03-G04) (APC = -3.42; 95% CI:-4.7 to -2.1; p<0.05). The most negative mortality trends were observed for intestinal infectious diseases (A00-A09) Annual Average Percentage Change (AAPC = 7.3; 95% CI:3.1 to 11.7; p<0.05). SDR substantially decreased in the first half of the study period, but then significantly increased in the second half. Infectious and parasitic diseases contributed to a loss of around 37,000 standard expected years of life in 1999 and more than 28,000 in 2012. During the study period, the SEYLLp index decreased from 9.59 to 7.39 per 10,000 population and the SEYLLd index decreased from 14.26 to 10.34 years (AAPC = 2.3; 95% CI:-2,9 to -1.7; p<0

Wolman's disease and cholesteryl ester storage disorder: the phenotypic spectrum of lysosomal acid lipase deficiency.

Science.gov (United States)

Pericleous, Marinos; Kelly, Claire; Wang, Tim; Livingstone, Callum; Ala, Aftab

2017-09-01

Lysosomal acid lipase deficiency is a rare, autosomal recessive condition caused by mutations in the gene encoding lysosomal acid lipase (LIPA) that result in reduced or absent activity of this essential enzyme. The severity of the resulting disease depends on the nature of the underlying mutation and magnitude of its effect on enzymatic function. Wolman's disease is a severe disorder that presents during infancy, resulting in failure to thrive, hepatomegaly, and hepatic failure, and an average life expectancy of less than 4 months. Cholesteryl ester storage disorder arises later in life and is less severe, although the two diseases share many common features, including dyslipidaemia and transaminitis. The prevalence of these diseases has been estimated at one in 40 000 to 300 000, but many cases are undiagnosed and unreported, and awareness among clinicians is low. Lysosomal acid lipase deficiency-which can be diagnosed using dry blood spot testing-is often misdiagnosed as non-alcoholic fatty liver disease (NAFLD), non-alcoholic steatohepatitis (NASH), hereditary dyslipidaemia, or cryptogenic cirrhosis. There are no formal guidelines for treatment of these patients, and treatment options are limited. In this Review we appraise the existing literature on Wolman's disease and cholesteryl ester storage disease, and discuss available treatments, including enzyme replacement therapy, oral lipid-lowering therapy, stem-cell transplantation, and liver transplantation. Copyright © 2017 Elsevier Ltd. All rights reserved.

Treatment of lysosomal storage disease in MPS VII mice using a recombinant adeno-associated virus.

Science.gov (United States)

Watson, G L; Sayles, J N; Chen, C; Elliger, S S; Elliger, C A; Raju, N R; Kurtzman, G J; Podsakoff, G M

1998-12-01

Mucopolysaccharidosis type VII (MPS VII) is a lysosomal storage disease caused by a genetic deficiency of beta-glucuronidase (GUS). We used a recombinant adeno-associated virus vector (AAV-GUS) to deliver GUS cDNA to MPS VII mice. The route of vector administration had a dramatic effect on the extent and distribution of GUS activity. Intramuscular injection of AAV-GUS resulted in high, localized production of GUS, while intravenous administration produced low GUS activity in several tissues. This latter treatment of MPS VII mice reduced glycosaminoglycan levels in the liver to normal and reduced storage granules dramatically. We show that a single administration of AAV-GUS can provide sustained expression of GUS in a variety of cell types and is sufficient to reverse the disease phenotype at least in the liver.

Absenteeism due to Functional Limitations Caused by Seven Common Chronic Diseases in US Workers.

Science.gov (United States)

Vuong, Tam D; Wei, Feifei; Beverly, Claudia J

2015-07-01

The study examined the relationship between functional limitation due to chronic diseases and absenteeism among full-time workers. The studied chronic diseases include arthritis/rheumatism, cancer, diabetes, heart disease, hypertension, lung disease, and stroke. We analyzed data from the 2011 to 2013 National Health Interview Survey. Economic impact was determined by workdays lost and lost income. Increase in absenteeism was observed for each studied condition. Employees with multiple conditions also saw increase absenteeism. Employers lose 28.2 million workdays annually ($4.95 billion in lost income) due to functional limitation caused by chronic diseases. The results show a burden on society due to functional limitation caused by studied chronic diseases. Employers should look into implementing intervention/prevention programs, such as the Chronic Disease Self-Management Programs, to help reduce the cost associated with absenteeism.

Mortality due to noncommunicable diseases in Brazil, 1990 to 2015, according to estimates from the Global Burden of Disease study

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Deborah Carvalho Malta

Full Text Available ABSTRACT CONTEXT AND OBJECTIVE: Noncommunicable diseases (NCDs are the leading health problem globally and generate high numbers of premature deaths and loss of quality of life. The aim here was to describe the major groups of causes of death due to NCDs and the ranking of the leading causes of premature death between 1990 and 2015, according to the Global Burden of Disease (GBD 2015 study estimates for Brazil. DESIGN AND SETTING: Cross-sectional study covering Brazil and its 27 federal states. METHODS: This was a descriptive study on rates of mortality due to NCDs, with corrections for garbage codes and underreporting of deaths. RESULTS: This study shows the epidemiological transition in Brazil between 1990 and 2015, with increasing proportional mortality due to NCDs, followed by violence, and decreasing mortality due to communicable, maternal and neonatal causes within the global burden of diseases. NCDs had the highest mortality rates over the whole period, but with reductions in cardiovascular diseases, chronic respiratory diseases and cancer. Diabetes increased over this period. NCDs were the leading causes of premature death (30 to 69 years: ischemic heart diseases and cerebrovascular diseases, followed by interpersonal violence, traffic injuries and HIV/AIDS. CONCLUSION: The decline in mortality due to NCDs confirms that improvements in disease control have been achieved in Brazil. Nonetheless, the high mortality due to violence is a warning sign. Through maintaining the current decline in NCDs, Brazil should meet the target of 25% reduction proposed by the World Health Organization by 2025.

Consistent quantification of climate impacts due to biogenic carbon storage across a range of bio-product systems

Energy Technology Data Exchange (ETDEWEB)

Guest, Geoffrey, E-mail: geoffrey.guest@ntnu.no; Bright, Ryan M., E-mail: ryan.m.bright@ntnu.no; Cherubini, Francesco, E-mail: francesco.cherubini@ntnu.no; Strømman, Anders H., E-mail: anders.hammer.stromman@ntnu.no

2013-11-15

Temporary and permanent carbon storage from biogenic sources is seen as a way to mitigate climate change. The aim of this work is to illustrate the need to harmonize the quantification of such mitigation across all possible storage pools in the bio- and anthroposphere. We investigate nine alternative storage cases and a wide array of bio-resource pools: from annual crops, short rotation woody crops, medium rotation temperate forests, and long rotation boreal forests. For each feedstock type and biogenic carbon storage pool, we quantify the carbon cycle climate impact due to the skewed time distribution between emission and sequestration fluxes in the bio- and anthroposphere. Additional consideration of the climate impact from albedo changes in forests is also illustrated for the boreal forest case. When characterizing climate impact with global warming potentials (GWP), we find a large variance in results which is attributed to different combinations of biomass storage and feedstock systems. The storage of biogenic carbon in any storage pool does not always confer climate benefits: even when biogenic carbon is stored long-term in durable product pools, the climate outcome may still be undesirable when the carbon is sourced from slow-growing biomass feedstock. For example, when biogenic carbon from Norway Spruce from Norway is stored in furniture with a mean life time of 43 years, a climate change impact of 0.08 kg CO{sub 2}eq per kg CO{sub 2} stored (100 year time horizon (TH)) would result. It was also found that when biogenic carbon is stored in a pool with negligible leakage to the atmosphere, the resulting GWP factor is not necessarily − 1 CO{sub 2}eq per kg CO{sub 2} stored. As an example, when biogenic CO{sub 2} from Norway Spruce biomass is stored in geological reservoirs with no leakage, we estimate a GWP of − 0.56 kg CO{sub 2}eq per kg CO{sub 2} stored (100 year TH) when albedo effects are also included. The large variance in GWPs across the range of

Consistent quantification of climate impacts due to biogenic carbon storage across a range of bio-product systems

International Nuclear Information System (INIS)

Guest, Geoffrey; Bright, Ryan M.; Cherubini, Francesco; Strømman, Anders H.

2013-01-01

Temporary and permanent carbon storage from biogenic sources is seen as a way to mitigate climate change. The aim of this work is to illustrate the need to harmonize the quantification of such mitigation across all possible storage pools in the bio- and anthroposphere. We investigate nine alternative storage cases and a wide array of bio-resource pools: from annual crops, short rotation woody crops, medium rotation temperate forests, and long rotation boreal forests. For each feedstock type and biogenic carbon storage pool, we quantify the carbon cycle climate impact due to the skewed time distribution between emission and sequestration fluxes in the bio- and anthroposphere. Additional consideration of the climate impact from albedo changes in forests is also illustrated for the boreal forest case. When characterizing climate impact with global warming potentials (GWP), we find a large variance in results which is attributed to different combinations of biomass storage and feedstock systems. The storage of biogenic carbon in any storage pool does not always confer climate benefits: even when biogenic carbon is stored long-term in durable product pools, the climate outcome may still be undesirable when the carbon is sourced from slow-growing biomass feedstock. For example, when biogenic carbon from Norway Spruce from Norway is stored in furniture with a mean life time of 43 years, a climate change impact of 0.08 kg CO 2 eq per kg CO 2 stored (100 year time horizon (TH)) would result. It was also found that when biogenic carbon is stored in a pool with negligible leakage to the atmosphere, the resulting GWP factor is not necessarily − 1 CO 2 eq per kg CO 2 stored. As an example, when biogenic CO 2 from Norway Spruce biomass is stored in geological reservoirs with no leakage, we estimate a GWP of − 0.56 kg CO 2 eq per kg CO 2 stored (100 year TH) when albedo effects are also included. The large variance in GWPs across the range of resource and carbon storage

Estimation of loss due to post harvest diseases of potato in markets ...

African Journals Online (AJOL)

Administrator

2011-09-26

Sep 26, 2011 ... percentage loss of potatoes due to important diseases occurring in the ... Survey of diseased potato and Collection of disease sample ... alcohol swab. A piece of ..... temperature of 17 to 25°C over 70% relative humidity and.

Severe steatohepatitis in a patient with a rare neutral lipid storage disorder due to ABHD5 mutation.

Science.gov (United States)

Ronchetti, Anna; Prati, Daniele; Pezzotta, Maria Grazia; Tavian, Daniela; Colombo, Roberto; Callea, Francesco; Colli, Agostino

2008-09-01

Fatty liver disease is mainly caused by alcohol consumption, excessive body weight, dyslipidemia and impaired glucose tolerance, but inherited disorders can sometimes be involved. We report the case of a 40-year-old woman with steatohepatitis and severe portal hypertension, associated with ichthyosis, cataract and hypoacusia. The clinical, pathological and genetic findings were consistent with a diagnosis of Chanarin-Dorfman syndrome (CDS), a rare autosomal recessive inherited neutral lipid storage disorder, and genetic analysis showed that a novel ABHD5 mutation is responsible.

Pulmonary hypertension due to left heart disease.

Science.gov (United States)

Berthelot, Emmanuelle; Bailly, Minh Tam; Hatimi, Safwane El; Robard, Ingrid; Rezgui, Hatem; Bouchachi, Amir; Montani, David; Sitbon, Olivier; Chemla, Denis; Assayag, Patrick

Pulmonary hypertension due to left heart disease, also known as group 2 pulmonary hypertension according to the European Society of Cardiology/European Respiratory Society classification, is the most common cause of pulmonary hypertension. In patients with left heart disease, the development of pulmonary hypertension favours right heart dysfunction, which has a major impact on disease severity and outcome. Over the past few years, this condition has been considered more frequently. However, epidemiological studies of group 2 pulmonary hypertension are less exhaustive than studies of other causes of pulmonary hypertension. In group 2 patients, pulmonary hypertension may be caused by an isolated increase in left-sided filling pressures or by a combination of this condition with increased pulmonary vascular resistance, with an abnormally high pressure gradient between arteries and pulmonary veins. A better understanding of the conditions underlying pulmonary hypertension is of key importance to establish a comprehensive diagnosis, leading to an adapted treatment to reduce heart failure morbidity and mortality. In this review, epidemiology, mechanisms and diagnostic approaches are reviewed; then, treatment options and future approaches are considered. Copyright © 2017. Published by Elsevier Masson SAS.

Changes in the contents of anthocyanins and other compounds in blackberry fruits due to freezing and long-term frozen storage.

Science.gov (United States)

Veberic, Robert; Stampar, Franci; Schmitzer, Valentina; Cunja, Vlasta; Zupan, Anka; Koron, Darinka; Mikulic-Petkovsek, Maja

2014-07-23

The aim of this study was to evaluate the effect of fast and slow freezing and frozen storage on the metabolite content of six blackberry cultivars. The content of metabolites determined with HPLC RI/PDA-MS in stored blackberries was compared with the initial content of the fruit. During frozen storage of fruits a loss of vitamin C up to 80% has been recorded along with changes of color values, which shifted to blue and yellow hues. The color changes were accompanied with increased pH levels and content of anthocyanins. Most of the phenolic groups, sugars, and organic acids showed a better extraction after storage, especially in the slow freezing treatment due to a higher degree of tissue damage by freezing. The 'Thornless Evergreen' cultivar was especially rich in sugars, vitamin C, and phenolic compounds, but the highest levels of anthocyanins were determined in 'Loch Ness' cultivar.

Adult onset glycogen storage disease type II (adult onset Pompe disease): report and magnetic resonance images of two cases

International Nuclear Information System (INIS)

Del Gaizo, Andrew; Banerjee, Sima; Terk, Michael

2009-01-01

Glycogen storage disease type II (GSDII), also referred to as Pompe disease or acid maltase deficiency, is a rare inherited condition caused by a deficiency in acid alpha-glucosidase (GAA) enzyme activity. The condition is often classified by age of presentation, with infantile and late onset variants (Laforet et al. J Neurology 55:1122-8, 2000). Late onset tends to present with progressive proximal muscle weakness and respiratory insufficiency (Winkel et al. J Neurology 252:875-84, 2005). We report two cases of biopsy confirmed adult onset GSDII, along with key Magnetic Resonance (MR) images. (orig.)

Pulmonary Disease due to Mycobacterium malmoense in British Columbia

Directory of Open Access Journals (Sweden)

Mohamed S Al-Moamary

1998-01-01

Full Text Available Mycobacterium malmoense was first described in northern Europe and the United Kingdom in 1977. Since then, reports have appeared with increasing frequency. Cases have, however, rarely been reported from the United States, and, until now, none have been reported in Canada. This may reflect either true low prevalence of the disease or underdiagnosis by laboratories due to slow growth of the organism. This report describes a case of pulmonary disease caused by M malmoense in a 44-year-old man from British Columbia who was successfully treated with an 18-month course of conventional antituberculous drugs combined with a macrolide. This is the first report of this disease in British Columbia and, to our knowledge, in Canada.

A convenient diagnostic function test of peripheral blood neutrophils in glycogen storage disease type Ib

NARCIS (Netherlands)

Verhoeven, A.J.; Visser, G; Van Zwieten, R; Gruszczynska, B; Poll-The, DWEET; Smit, GPA

Neutrophils from patients suffering from glycogen storage disease type To (GSD-Ib) show several defects, one of which is a decreased rate of glucose utilization. In this study, we established experimental conditions to show the stimulation of the neutrophil respiratory burst by extracellular

[Forensic Analysis of 6 Cases of Sudden Death due to Hyperthyroid Heart Disease].

Science.gov (United States)

Zhang, M Z; Li, B X; Zhao, R; Guan, D W; Zhang, G H; Wu, X; Zhu, B L; Li, R B

2017-10-01

To analyse the cases of sudden death due to hyperthyroid heart disease, and explore the general information of deaths and the forensic pathological characteristics to provide reference evidence for forensic identification of such cases. Six cases of sudden death due to hyperthyroid heart disease between 2001 and 2016 were selected from School of Forensic Medicine, China Medical University. The general information （gender and age）, clinical manifestations, medical history, anatomical and histopathological findings, biochemical parameters and cause of death were analysed retrospectively. Most of the 6 patients had definite history of hyperthyroidism, and they all showed certain degrees of symptoms of cardiovascular disease; had obvious incentive factors of death; histopathological examination of thyroid conformed to the performances of diffuse toxic goiter; with increase of cardiac weight, dilatation of cardiac chambers, myocardial hypertrophy and focal necrosis; postmortem biochemical analyses of pericardial fluid could be used as an additional method for diagnostic of sudden death due to hyperthyroid heart disease. The identification of death due to hyperthyroid heart disease should be based on the clinical history and the results of autopsy, histopathological examination, postmortem toxicology tests. The postmortem biochemical detection of thyroid and cardiac function should be performed if necessary. Copyright© by the Editorial Department of Journal of Forensic Medicine

Muscle MRI in neutral lipid storage disease (NLSD).

Science.gov (United States)

Garibaldi, Matteo; Tasca, Giorgio; Diaz-Manera, Jordi; Ottaviani, Pierfancesco; Laschena, Francesco; Pantoli, Donatella; Gerevini, Simonetta; Fiorillo, Chiara; Maggi, Lorenzo; Tasca, Elisabetta; D'Amico, Adele; Musumeci, Olimpia; Toscano, Antonio; Bruno, Claudio; Massa, Roberto; Angelini, Corrado; Bertini, Enrico; Antonini, Giovanni; Pennisi, Elena Maria

2017-07-01

Neutral lipid storage disease (NLSD) is a rare inherited disorder of lipid metabolism resulting in lipid droplets accumulation in different tissues. Skeletal muscle could be affected in both two different form of disease: NLSD with myopathy (NLSD-M) and NLSD with ichthyosis (NLSD-I). We present the muscle imaging data of 12 patients from the Italian Network for NLSD: ten patients presenting NLSD-M and two patients with NLSD-I. In NLSD-M gluteus minimus, semimembranosus, soleus and gastrocnemius medialis in the lower limbs and infraspinatus in the upper limbs were the most affected muscles. Gracilis, sartorius, subscapularis, pectoralis, triceps brachii and sternocleidomastoid were spared. Muscle involvement was not homogenous and characteristic "patchy" replacement was observed in at least one muscle in all the patients. Half of the patients showed one or more STIR positive muscles. In both NLSD-I cases muscle involvement was not observed by T1-TSE sequences, but one of them showed positive STIR images in more than one muscle in the leg. Our data provides evidence that muscle imaging can identify characteristic alterations in NLSD-M, characterized by a specific pattern of muscle involvement with "patchy" areas of fatty replacement. Larger cohorts are needed to assess if a distinct pattern of muscle involvement exists also for NLSD-I.

Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: Initial results in Brazil

Directory of Open Access Journals (Sweden)

Eurico Camargo Neto

2018-06-01

Full Text Available Abstract We describe the initial results of a neonatal screening program for four lysosomal storage diseases (MPS I, Pompe, Gaucher and Fabry using the digital microfluidics methodology. The method successfully identified patients previously diagnosed with these diseases and was used to test dried blood spot samples obtained from 10,527 newborns aged 2 to 14 days. The digital microfluidic technology shows potential for a simple, rapid and high-throughput screening for these four diseases in a standard neonatal screening laboratory.

Burden of physical inactivity and hospitalization costs due to chronic diseases.

Science.gov (United States)

Bielemann, Renata Moraes; Silva, Bruna Gonçalves Cordeiro da; Coll, Carolina de Vargas Nunes; Xavier, Mariana Otero; Silva, Shana Ginar da

2015-01-01

To evaluate the physical inactivity-related inpatient costs of chronic non-communicable diseases. This study used data from 2013, from Brazilian Unified Health System, regarding inpatient numbers and costs due to malignant colon and breast neoplasms, cerebrovascular diseases, ischemic heart diseases, hypertension, diabetes, and osteoporosis. In order to calculate the share physical inactivity represents in that, the physical inactivity-related risks, which apply to each disease, were considered, and physical inactivity prevalence during leisure activities was obtained from Pesquisa Nacional por Amostra de Domicílio(Brazil's National Household Sample Survey). The analysis was stratified by genders and residing country regions of subjects who were 40 years or older. The physical inactivity-related hospitalization cost regarding each cause was multiplied by the respective share it regarded to. In 2013, 974,641 patients were admitted due to seven different causes in Brazil, which represented a high cost. South region was found to have the highest patient admission rate in most studied causes. The highest prevalences for physical inactivity were observed in North and Northeast regions. The highest inactivity-related share in men was found for osteoporosis in all regions (≈ 35.0%), whereas diabetes was found to have a higher share regarding inactivity in women (33.0% to 37.0% variation in the regions). Ischemic heart diseases accounted for the highest total costs that could be linked to physical inactivity in all regions and for both genders, being followed by cerebrovascular diseases. Approximately 15.0% of inpatient costs from Brazilian Unified Health System were connected to physical inactivity. Physical inactivity significantly impacts the number of patient admissions due to the evaluated causes and through their resulting costs, with different genders and country regions representing different shares.

Psychosis Crisis Associated with Thyrotoxicosis due to Graves’ Disease

Directory of Open Access Journals (Sweden)

Lilibet Urias-Uribe

2017-01-01

Full Text Available We present the case of a patient with previous psychiatric illness, acutely exacerbated by thyroid storm due to Graves’ disease, in whom treatment with antipsychotics induced catatonia. These associations are extremely rare and may be confused with Hashimoto’s encephalopathy, especially in the presence of anti-thyroid antibodies in cerebrospinal fluid. The treatment consists in the control of the triggering disease (in this case the resolution of the thyrotoxicosis and the use of benzodiazepines. However, in some cases, the resolution of psychiatric symptoms is partial and may require the use of electroconvulsive therapy.

Glyco-engineering strategies for the development of therapeutic enzymes with improved efficacy for the treatment of lysosomal storage diseases.

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Oh, Doo-Byoung

2015-08-01

Lysosomal storage diseases (LSDs) are a group of inherent diseases characterized by massive accumulation of undigested compounds in lysosomes, which is caused by genetic defects resulting in the deficiency of a lysosomal hydrolase. Currently, enzyme replacement therapy has been successfully used for treatment of 7 LSDs with 10 approved therapeutic enzymes whereas new approaches such as pharmacological chaperones and gene therapy still await evaluation in clinical trials. While therapeutic enzymes for Gaucher disease have N-glycans with terminal mannose residues for targeting to macrophages, the others require N-glycans containing mannose-6-phosphates that are recognized by mannose-6-phosphate receptors on the plasma membrane for cellular uptake and targeting to lysosomes. Due to the fact that efficient lysosomal delivery of therapeutic enzymes is essential for the clearance of accumulated compounds, the suitable glycan structure and its high content are key factors for efficient therapeutic efficacy. Therefore, glycan remodeling strategies to improve lysosomal targeting and tissue distribution have been highlighted. This review describes the glycan structures that are important for lysosomal targeting and provides information on recent glyco-engineering technologies for the development of therapeutic enzymes with improved efficacy.

Fetal ascites and oligohydramnios: prenatal diagnosis of a sialic acid storage disease (index case).

Science.gov (United States)

Poulain, P; Odent, S; Maire, I; Milon, J; Proudhon, J F; Jouan, H; Le Marec, B

1995-09-01

In a 20-year-old primiparous patient, a routine ultrasound scan performed at 28 weeks revealed fetal ascites, bilateral talipes, and oligohydramnios. This woman, married to possibly her first cousin, was at risk for an autosomal recessive disease, a metabolic disorder. At 29 weeks, an amniotic fluid biochemical study revealed the presence of an abnormal band of free sialic acid, leading to a diagnosis of a congenital form of sialic acid storage disease. Termination of pregnancy was performed at 30 weeks. Measurement of free sialic acid in cultured fetal skin fibroblasts confirmed the diagnosis.

Solar Heating System with Building-Integrated Heat Storage

DEFF Research Database (Denmark)

Heller, Alfred

1996-01-01

Traditional solar heating systems cover between 5 and 10% of the heat demand fordomestic hot water and comfort heating. By applying storage capacity this share can beincreased much. The Danish producer of solar heating systems, Aidt-Miljø, markets such a system including storage of dry sand heated...... by PP-pipe heat exchanger. Heat demand is reduced due to direct solar heating, and due to storage. Heat demand is reduced due to direct solar heating, due to storage and due to lower heat losses through the ground. In theory, by running the system flow backwards through the sand storage, active heating...... can be achieved.The objective of the report is to present results from measured system evaluation andcalculations and to give guidelines for the design of such solar heating systems with building integrated sand storage. The report is aimed to non-technicians. In another report R-006 the main results...

Optimum Temperature for Storage of Fruit and Vegetables with Reference to Chilling Injury

Science.gov (United States)

Murata, Takao

Cold storage is an important technique for preserving fresh fruit and vegetables. Deterioration due to ripening, senescence and microbiological disease can be retarded by storage at optimum temperature being slightly above the freezing point of tissues of fruit and vegetables. However, some fruit and vegetables having their origins in tropical or subtropical regions of the world are subject to chilling injury during transportation, storage and wholesale distribution at low temperature above freezing point, because they are usually sensitive to low temperature in the range of 15&digC to 0°C. This review will focus on the recent informations regarding chilling injury of fruit and vegetables, and summarize the optimum temperature for transportation and storage of fruit and vegetables in relation to chilling injury.

Prevention of Lysosomal Storage Diseases and Derivation of Mutant Stem Cell Lines by Preimplantation Genetic Diagnosis

Science.gov (United States)

Altarescu, Gheona; Beeri, Rachel; Eiges, Rachel; Epsztejn-Litman, Silvina; Eldar-Geva, Talia; Elstein, Deborah; Zimran, Ari; Margalioth, Ehud J.; Levy-Lahad, Ephrat; Renbaum, Paul

2012-01-01

Preimplantation genetic diagnosis (PGD) allows birth of unaffected children for couples at risk for a genetic disorder. We present the strategy and outcome of PGD for four lysosomal storage disorders (LSD): Tay-Sachs disease (TSD), Gaucher disease (GD), Fabry disease (FD), and Hunter syndrome (HS), and subsequent development of stem cell lines. For each disease, we developed a family-specific fluorescent multiplex single-cell PCR protocol that included the familial mutation and informative markers surrounding the mutation. Embryo biopsy and PGD analysis were performed on either oocytes (polar bodies one and two) or on single blastomeres from a six-cell embryo. We treated twenty families carrying mutations in these lysosomal storage disorders, including 3 couples requiring simultaneous analysis for two disorders (TSD/GD, TSD/balanced Robertsonian translocation 45XYder(21;14), and HS/oculocutaneus albinism). These analyses led to an overall pregnancy rate/embryo transfer of 38% and the birth of 20 unaffected children from 17 families. We have found that PGD for lysosomal disorders is a safe and effective method to prevent birth of affected children. In addition, by using mutant embryos for the derivation of stem cell lines, we have successfully established GD and HS hESC lines for use as valuable models in LSD research. PMID:23320174

Impaired Autophagy in the Lipid-Storage Disorder Niemann-Pick Type C1 Disease

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Sovan Sarkar

2013-12-01

Full Text Available Autophagy dysfunction has been implicated in misfolded protein accumulation and cellular toxicity in several diseases. Whether alterations in autophagy also contribute to the pathology of lipid-storage disorders is not clear. Here, we show defective autophagy in Niemann-Pick type C1 (NPC1 disease associated with cholesterol accumulation, where the maturation of autophagosomes is impaired because of defective amphisome formation caused by failure in SNARE machinery, whereas the lysosomal proteolytic function remains unaffected. Expression of functional NPC1 protein rescues this defect. Inhibition of autophagy also causes cholesterol accumulation. Compromised autophagy was seen in disease-affected organs of Npc1 mutant mice. Of potential therapeutic relevance is that HP-β-cyclodextrin, which is used for cholesterol-depletion treatment, impedes autophagy, whereas stimulating autophagy restores its function independent of amphisome formation. Our data suggest that a low dose of HP-β-cyclodextrin that does not perturb autophagy, coupled with an autophagy inducer, may provide a rational treatment strategy for NPC1 disease.

Gaucher's disease: Report of 11 cases with review of literature ...

African Journals Online (AJOL)

Gaucher's disease (GD) is a lysosomal storage disorder due to glucocerebrosidase deficiency; it's one of the rare genetic diseases for which therapy is now available. The purpose of this work is to study the epidemiological features of the disease and to highlight the diagnostic difficulties. We performed an 11-year ...

No Geographic Correlation between Lyme Disease and Death Due to 4 Neurodegenerative Disorders, United States, 2001-2010.

Science.gov (United States)

Forrester, Joseph D; Kugeler, Kiersten J; Perea, Anna E; Pastula, Daniel M; Mead, Paul S

2015-11-01

Associations between Lyme disease and certain neurodegenerative diseases have been proposed, but supportive evidence for an association is lacking. Similar geographic distributions would be expected if 2 conditions were etiologically linked. Thus, we compared the distribution of Lyme disease cases in the United States with the distributions of deaths due to Alzheimer disease, amyotrophic lateral sclerosis (ALS), multiple sclerosis (MS), and Parkinson disease; no geographic correlations were identified. Lyme disease incidence per US state was not correlated with rates of death due to ALS, MS, or Parkinson disease; however, an inverse correlation was detected between Lyme disease and Alzheimer disease. The absence of a positive correlation between the geographic distribution of Lyme disease and the distribution of deaths due to Alzheimer disease, ALS, MS, and Parkinson disease provides further evidence that Lyme disease is not associated with the development of these neurodegenerative conditions.

Sudden unexpected death due to Graves' disease during physical altercation.

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Wei, Dengming; Yuan, Xiaogang; Yang, Tiantong; Chang, Lin; Zhang, Xiang; Burke, Allen; Fowler, David; Li, Ling

2013-09-01

We report a case of a 30-year-old woman who suddenly collapsed after having a physical altercation with her husband. Despite immediate resuscitation, she died on arrival at the hospital. The victim's parents requested an autopsy because they believed that their daughter was killed by her husband. Postmortem examination revealed that the victim had a diffusely enlarged thyroid gland and cardiomegaly with left ventricular hypertrophy. There was no evidence of significant trauma on the body. Further postmortem thyroid function tests and review of her medical history indicated that her death was due to Graves' disease. To the best of our knowledge, this is the first case reported of sudden death due to cardiac arrhythmia from Graves' disease induced by physical and emotional stress associated with the criminal activity of another person. The autopsy findings are described. In addition, the literature is reviewed and the significance of postmortem evaluation of thyroid hormones in the cases of sudden death is discussed. © 2013 American Academy of Forensic Sciences.

From Lysosomal Storage Diseases to NKT Cell Activation and Back

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Cátia S. Pereira

2017-02-01

Full Text Available Lysosomal storage diseases (LSDs are inherited metabolic disorders characterized by the accumulation of different types of substrates in the lysosome. With a multisystemic involvement, LSDs often present a very broad clinical spectrum. In many LSDs, alterations of the immune system were described. Special emphasis was given to Natural Killer T (NKT cells, a population of lipid-specific T cells that is activated by lipid antigens bound to CD1d (cluster of differentiation 1 d molecules at the surface of antigen-presenting cells. These cells have important functions in cancer, infection, and autoimmunity and were altered in a variety of LSDs’ mouse models. In some cases, the observed decrease was attributed to defects in either lipid antigen availability, trafficking, processing, or loading in CD1d. Here, we review the current knowledge about NKT cells in the context of LSDs, including the alterations detected, the proposed mechanisms to explain these defects, and the relevance of these findings for disease pathology. Furthermore, the effect of enzyme replacement therapy on NKT cells is also discussed.

Glycogen storage disease type Ia in canines: a model for human metabolic and genetic liver disease.

Science.gov (United States)

Specht, Andrew; Fiske, Laurie; Erger, Kirsten; Cossette, Travis; Verstegen, John; Campbell-Thompson, Martha; Struck, Maggie B; Lee, Young Mok; Chou, Janice Y; Byrne, Barry J; Correia, Catherine E; Mah, Cathryn S; Weinstein, David A; Conlon, Thomas J

2011-01-01

A canine model of Glycogen storage disease type Ia (GSDIa) is described. Affected dogs are homozygous for a previously described M121I mutation resulting in a deficiency of glucose-6-phosphatase-α. Metabolic, clinicopathologic, pathologic, and clinical manifestations of GSDIa observed in this model are described and compared to those observed in humans. The canine model shows more complete recapitulation of the clinical manifestations seen in humans including "lactic acidosis", larger size, and longer lifespan compared to other animal models. Use of this model in preclinical trials of gene therapy is described and briefly compared to the murine model. Although the canine model offers a number of advantages for evaluating potential therapies for GSDIa, there are also some significant challenges involved in its use. Despite these challenges, the canine model of GSDIa should continue to provide valuable information about the potential for generating curative therapies for GSDIa as well as other genetic hepatic diseases.

Glycogen Storage Disease Type Ia in Canines: A Model for Human Metabolic and Genetic Liver Disease

Directory of Open Access Journals (Sweden)

Andrew Specht

2011-01-01

Full Text Available A canine model of Glycogen storage disease type Ia (GSDIa is described. Affected dogs are homozygous for a previously described M121I mutation resulting in a deficiency of glucose-6-phosphatase-α. Metabolic, clinicopathologic, pathologic, and clinical manifestations of GSDIa observed in this model are described and compared to those observed in humans. The canine model shows more complete recapitulation of the clinical manifestations seen in humans including “lactic acidosis”, larger size, and longer lifespan compared to other animal models. Use of this model in preclinical trials of gene therapy is described and briefly compared to the murine model. Although the canine model offers a number of advantages for evaluating potential therapies for GSDIa, there are also some significant challenges involved in its use. Despite these challenges, the canine model of GSDIa should continue to provide valuable information about the potential for generating curative therapies for GSDIa as well as other genetic hepatic diseases.

Photovoltaic power systems energy storage

International Nuclear Information System (INIS)

Buldini, P.L.

1991-01-01

Basically, the solar photovoltaic power system consists of: Array of solar panels; Charge/voltage stabilizer; Blocking diode and Storage device. The storage device is a very important part of the system due to the necessity to harmonize the inevitable time shift between energy supply and demand. As energy storage, different devices can be utilized, such as hydropumping, air or other gas compression, flywheel, superconducting magnet, hydrogen generation and so on, but actually secondary (rechargeable) electrochemical cells appear to be the best storage device, due to the direct use for recharge of the d.c. current provided by the solar panels, without any intermediate step of energy transformation and its consequent loss of efficiency

Cellular immune responses to ESAT-6 discriminate between patients with pulmonary disease due to Mycobacterium avium complex and those with pulmonary disease due to Mycobacterium tuberculosis

DEFF Research Database (Denmark)

Lein, A D; von Reyn, C F; Ravn, P

1999-01-01

ESAT-6 (for 6-kDa early secreted antigenic target) is a secreted antigen found almost exclusively in organisms of the Mycobacterium tuberculosis complex. We compared in vitro gamma interferon (IFN-gamma) responses by peripheral blood mononuclear cells to this antigen in patients with pulmonary...... disease due to either Mycobacterium avium complex (MAC) or Mycobacterium tuberculosis with those in healthy, skin test-negative, control subjects. Significant IFN-gamma responses to ESAT-6 were detected in 16 (59%) of 27 M. tuberculosis pulmonary disease patients, 0 (0%) of 8 MAC disease patients, and 0...... (0%) of 8 controls. Significant IFN-gamma responses to M. tuberculosis purified protein derivative were detected in 23 (85%) of 27 M. tuberculosis disease patients, 2 (25%) of 8 MAC disease patients, and 5 (63%) of 8 healthy controls. M. avium sensitin was recognized in 24 (89%) of 27 M. tuberculosis...

Use of modified cornstarch therapy to extend fasting in glycogen storage disease types Ia and Ib

NARCIS (Netherlands)

Correia, Catherine E.; Bhattacharya, Kaustuv; Lee, Philip J.; Shuster, Jonathan J.; Theriaque, Douglas W.; Shankar, Meena N.; Smit, G. Peter A.; Weinstein, David A.

2008-01-01

Background: Type I glycogen storage disease (GSD) is caused by a deficiency of glucose-6-phosphatase resulting in severe fasting hypoglycemia. Objective: We compared the efficacy of a new modified starch with the currently used cornstarch therapy in patients with type Ia and Ib GSD. Design: This was

Investigation and management of the hepatic glycogen storage diseases.

Science.gov (United States)

Bhattacharya, Kaustuv

2015-07-01

The glycogen storage diseases (GSD) comprise a group of disorders that involve the disruption of metabolism of glycogen. Glycogen is stored in various organs including skeletal muscle, the kidneys and liver. The liver stores glycogen to supply the rest of the body with glucose when required. Therefore, disruption of this process can lead to hypoglycaemia. If glycogen is not broken down effectively, this can lead to hepatomegaly. Glycogen synthase deficiency leads to impaired glycogen synthesis and consequently the liver is small. Glycogen brancher deficiency can lead to abnormal glycogen being stored in the liver leading to a quite different disorder of progressive liver dysfunction. Understanding the physiology of GSD I, III, VI and IX guides dietary treatments and the provision of appropriate amounts and types of carbohydrates. There has been recent re-emergence in the literature of the use of ketones in therapy, either in the form of the salt D,L-3-hydroxybutyrate or medium chain triglyceride (MCT). High protein diets have also been advocated. Alternative waxy maize based starches seem to show promising early data of efficacy. There are many complications of each of these disorders and they need to be prospectively surveyed and managed. Liver and kidney transplantation is still indicated in severe refractory disease.

Glycogen storage disease type I: clinical and laboratory profile

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Berenice L. Santos

2014-11-01

Full Text Available Objectives: To characterize the clinical, laboratory, and anthropometric profile of a sample of Brazilian patients with glycogen storage disease type I managed at an outpatient referral clinic for inborn errors of metabolism. Methods: This was a cross-sectional outpatient study based on a convenience sampling strategy. Data on diagnosis, management, anthropometric parameters, and follow-up were assessed. Results: Twenty-one patients were included (median age 10 years, range 1–25 years, all using uncooked cornstarch therapy. Median age at diagnosis was 7 months (range, 1–132 months, and 19 patients underwent liver biopsy for diagnostic confirmation. Overweight, short stature, hepatomegaly, and liver nodules were present in 16 of 21, four of 21, nine of 14, and three of 14 patients, respectively. A correlation was found between height-for-age and BMI-for-age Z-scores (r = 0.561; p = 0.008. Conclusions: Diagnosis of glycogen storage disease type I is delayed in Brazil. Most patients undergo liver biopsy for diagnostic confirmation, even though the combination of a characteristic clinical presentation and molecular methods can provide a definitive diagnosis in a less invasive manner. Obesity is a side effect of cornstarch therapy, and appears to be associated with growth in these patients. Resumo: Objetivos: Caracterizar o perfil clínico, laboratorial e antropométrico de uma amostra de pacientes brasileiros com doença de depósito de glicogênio tipo I tratados em um ambulatório de referência para erros inatos do metabolismo. Métodos: Este foi um estudo ambulatorial transversal com base em uma estratégia de amostragem de conveniência. Foram avaliados os dados com relação ao diagnóstico, tratamento, parâmetros antropométricos e acompanhamento. Resultados: Foram incluídos 21 pacientes (idade média de 10 anos, faixa 1-25 anos de idade, e todos se encontravam em terapia de amido de milho cru. A idade média na época do diagn

Impaired autophagy in the lipid-storage disorder Niemann-Pick type C1 disease.

Science.gov (United States)

Sarkar, Sovan; Carroll, Bernadette; Buganim, Yosef; Maetzel, Dorothea; Ng, Alex H M; Cassady, John P; Cohen, Malkiel A; Chakraborty, Souvik; Wang, Haoyi; Spooner, Eric; Ploegh, Hidde; Gsponer, Joerg; Korolchuk, Viktor I; Jaenisch, Rudolf

2013-12-12

Autophagy dysfunction has been implicated in misfolded protein accumulation and cellular toxicity in several diseases. Whether alterations in autophagy also contribute to the pathology of lipid-storage disorders is not clear. Here, we show defective autophagy in Niemann-Pick type C1 (NPC1) disease associated with cholesterol accumulation, where the maturation of autophagosomes is impaired because of defective amphisome formation caused by failure in SNARE machinery, whereas the lysosomal proteolytic function remains unaffected. Expression of functional NPC1 protein rescues this defect. Inhibition of autophagy also causes cholesterol accumulation. Compromised autophagy was seen in disease-affected organs of Npc1 mutant mice. Of potential therapeutic relevance is that HP-β-cyclodextrin, which is used for cholesterol-depletion treatment, impedes autophagy, whereas stimulating autophagy restores its function independent of amphisome formation. Our data suggest that a low dose of HP-β-cyclodextrin that does not perturb autophagy, coupled with an autophagy inducer, may provide a rational treatment strategy for NPC1 disease. Copyright © 2013 The Authors. Published by Elsevier Inc. All rights reserved.

Cognitive Impairments and Subjective Cognitive Complaints in Fabry Disease

DEFF Research Database (Denmark)

Loeb, Josefine; Feldt-Rasmussen, Ulla; Madsen, Christoffer Valdorff

2018-01-01

Fabry disease is a rare progressive X-linked lysosomal storage disorder which leads to neuropathic pain, organ dysfunction and cerebral pathology. Few studies have investigated cognitive impairment in Fabry disease and these previous studies are difficult to compare due to heterogeneous methodolo......Fabry disease is a rare progressive X-linked lysosomal storage disorder which leads to neuropathic pain, organ dysfunction and cerebral pathology. Few studies have investigated cognitive impairment in Fabry disease and these previous studies are difficult to compare due to heterogeneous...... methodological designs and small cohorts. The objective was to investigate the frequency of cognitive impairment in the Danish nationwide cohort of Fabry patients. Further, we examined if subjective cognitive complaints were associated with objective cognitive performances in this patient group....... Neuropsychological tests (17 measures) and evaluation of subjective complaints with the Perceived Deficits Questionnaire (PDQ) were applied in 41 of 63 patients. According to an a priori definition, 12 patients (29.3%) were cognitively impaired. Tests tapping psychomotor speed, attention and executive functions had...

[Dementia due to Endocrine Diseases].

Science.gov (United States)

Matsunaga, Akiko; Yoneda, Makoto

2016-04-01

Endocrine diseases affecting various organs, such as the pituitary gland, the thyroid, the parathyroid, the adrenal glands and the pancreas, occasionally cause dementia. While Alzheimer's disease (AD) is the main cause of dementia in the elderly and is untreatable, dementia caused by endocrine diseases is treatable in most cases. However, patients with dementia associated with endocrine diseases show memory impairments similar to those found in AD, often leading to misdiagnoses. Patients with endocrine diseases often present with other characteristic systemic and neuropsychiatric symptoms caused by altered hormone levels. Such neuropsychiatric symptoms include involuntary movements, depression, seizures, and muscle weakness. In these cases, abnormalities in imaging and blood or urine tests are helpful in making a differential diagnosis. As delays in the diagnosis and treatment of these patients may cause irreversible brain damage, it is imperative for clinicians to carefully exclude the possibility of latent endocrine diseases when treating patients with dementia.

Liver fibrosis in type I Gaucher disease: magnetic resonance imaging, transient elastography and parameters of iron storage.

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Anneloes E Bohte

Full Text Available Long term liver-related complications of type-1 Gaucher disease (GD, a lysosomal storage disorder, include fibrosis and an increased incidence of hepatocellular carcinoma. Splenectomy has been implicated as a risk factor for the development of liver pathology in GD. High ferritin concentrations are a feature of GD and iron storage in Gaucher cells has been described, but iron storage in the liver in relation to liver fibrosis has not been studied. Alternatively, iron storage in GD may be the result of iron supplementation therapy or regular blood transfusions in patients with severe cytopenia. In this pilot study, comprising 14 type-1 GD patients (7 splenectomized, 7 non-splenectomized and 7 healthy controls, we demonstrate that liver stiffness values, measured by Transient Elastography and MR-Elastography, are significantly higher in splenectomized GD patients when compared with non-splenectomized GD patients (p = 0.03 and p = 0.01, respectively. Liver iron concentration was elevated (>60±30 µmol/g in 4 GD patients of whom 3 were splenectomized. No relationship was found between liver stiffness and liver iron concentration. HFE gene mutations were more frequent in splenectomized (6/7 than in non-splenectomized (2/7 participants (p = 0.10. Liver disease appeared more advanced in splenectomized than in non-splenectomized patients. We hypothesize a relationship with excessive hepatic iron accumulation in splenectomized patients. We recommend that all splenectomized patients, especially those with evidence of substantial liver fibrosis undergo regular screening for HCC, according to current guidelines.

Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease

NARCIS (Netherlands)

Tarailo-Graovac, M. (Maja); Drögemöller, B.I. (Britt I.); Wasserman, W.W. (Wyeth W.); C.J. Ross; A.M.W. van den Ouweland (Ans); N. Darin (Niklas); Kollberg, G. (Gittan); Van Karnebeek, C.D.M. (Clara D. M.); Blomqvist, M. (Maria)

2017-01-01

textabstractBackground: Sialic acid storage diseases are neurodegenerative disorders characterized by accumulation of sialic acid in the lysosome. These disorders are caused by mutations in SLC17A5, the gene encoding sialin, a sialic acid transporter located in the lysosomal membrane. The most

CALCULATING ENERGY STORAGE DUE TO TOPOLOGICAL CHANGES IN EMERGING ACTIVE REGION NOAA AR 11112

International Nuclear Information System (INIS)

Tarr, Lucas; Longcope, Dana

2012-01-01

The minimum current corona model provides a way to estimate stored coronal energy using the number of field lines connecting regions of positive and negative photospheric flux. This information is quantified by the net flux connecting pairs of opposing regions in a connectivity matrix. Changes in the coronal magnetic field, due to processes such as magnetic reconnection, manifest themselves as changes in the connectivity matrix. However, the connectivity matrix will also change when flux sources emerge or submerge through the photosphere, as often happens in active regions. We have developed an algorithm to estimate the changes in flux due to emergence and submergence of magnetic flux sources. These estimated changes must be accounted for in order to quantify storage and release of magnetic energy in the corona. To perform this calculation over extended periods of time, we must additionally have a consistently labeled connectivity matrix over the entire observational time span. We have therefore developed an automated tracking algorithm to generate a consistent connectivity matrix as the photospheric source regions evolve over time. We have applied this method to NOAA Active Region 11112, which underwent a GOES M2.9 class flare around 19:00 on 2010 October 16th, and calculated a lower bound on the free magnetic energy buildup of ∼8.25 × 10 30 erg over 3 days.

Sustained high plasma mannose less sensitive to fluctuating blood glucose in glycogen storage disease type Ia children

NARCIS (Netherlands)

Nagasaka, Hironori; Yorifuji, Tohru; Bandsma, Robert H. J.; Takatani, Tomozumi; Asano, Hisaki; Mochizuki, Hiroshi; Takuwa, Mayuko; Tsukahara, Hirokazu; Inui, Ayano; Tsunoda, Tomoyuki; Komatsu, Haruki; Hiejima, Eitaro; Fujisawa, Tomoo; Hirano, Ken-ichi; Miida, Takashi; Ohtake, Akira; Taguchi, Tadao; Miwa, Ichitomo

Plasma mannose is suggested to be largely generated from liver glycogen-oriented glucose-6-phosphate. This study examined plasma mannose in glycogen storage disease type Ia (GSD Ia) lacking conversion of glucose-6-phosphate to glucose in the liver. We initially examined fasting-and postprandial 2

Skeletal muscle metabolism is impaired during exercise in glycogen storage disease type III

DEFF Research Database (Denmark)

Preisler, Nicolai; Laforêt, Pascal; Madsen, Karen Lindhardt

2015-01-01

/kg/min (p = 0.024). Fructose ingestion improved exercise tolerance in the patients. CONCLUSION: Similar to patients with McArdle disease, in whom muscle glycogenolysis is also impaired, GSDIIIa is associated with a reduced skeletal muscle oxidation of carbohydrates and a compensatory increase in fatty acid......OBJECTIVE: Glycogen storage disease type IIIa (GSDIIIa) is classically regarded as a glycogenosis with fixed weakness, but we hypothesized that exercise intolerance in GSDIIIa is related to muscle energy failure and that oral fructose ingestion could improve exercise tolerance in this metabolic...... myopathy. METHODS: We challenged metabolism with cycle-ergometer exercise and measured substrate turnover and oxidation rates using stable isotope methodology and indirect calorimetry in 3 patients and 6 age-matched controls on 1 day, and examined the effect of fructose ingestion on exercise tolerance...

The burden of disease due to tuberculosis in the state of Santa Catarina, Brazil.

Science.gov (United States)

Ferrer, Glênio César Nunes; da Silva, Rosemeri Maurici; Ferrer, Kelian Tenfen; Traebert, Jefferson

2014-01-01

To estimate the burden of disease due to tuberculosis in the state of Santa Catarina, Brazil, in 2009. This was an epidemiological study with an ecological design. Data on tuberculosis incidence and mortality were collected from specific Brazilian National Ministry of Health databases. The burden of disease due to tuberculosis was based on the calculation of disability-adjusted life years (DALYs). The DALYs were estimated by adding the years of life lost (YLLs) and years lived with disability (YLDs). Absolute values were transformed into rates per 100,000 population. The rates were calculated by gender, age group, and health care macroregion. The burden of disease due to tuberculosis was 5,644.27 DALYs (92.25 DALYs/100,000 population), YLLs and YLDs respectively accounting for 78.77% and 21.23% of that total. The highest rates were found in males in the 30-44 and 45-59 year age brackets, although that was not true in every health care macroregion. Overall, the highest estimated burden was in the Planalto Norte macroregion (179.56 DALYs/100,000 population), followed by the Nordeste macroregion (167.07 DALYs/100,000 population). In the majority of the health care macroregions of Santa Catarina, the burden of disease due to tuberculosis was concentrated in adult males, the level of that concentration varying among the various macroregions.

The burden of disease due to tuberculosis in the state of Santa Catarina, Brazil

Directory of Open Access Journals (Sweden)

Glenio Cesar Nunes Ferrer

2014-01-01

Full Text Available OBJECTIVE: To estimate the burden of disease due to tuberculosis in the state of Santa Catarina, Brazil, in 2009. METHODS: This was an epidemiological study with an ecological design. Data on tuberculosis incidence and mortality were collected from specific Brazilian National Ministry of Health databases. The burden of disease due to tuberculosis was based on the calculation of disability-adjusted life years (DALYs. The DALYs were estimated by adding the years of life lost (YLLs and years lived with disability (YLDs. Absolute values were transformed into rates per 100,000 population. The rates were calculated by gender, age group, and health care macroregion. RESULTS: The burden of disease due to tuberculosis was 5,644.27 DALYs (92.25 DALYs/100,000 population, YLLs and YLDs respectively accounting for 78.77% and 21.23% of that total. The highest rates were found in males in the 30-44 and 45-59 year age brackets, although that was not true in every health care macroregion. Overall, the highest estimated burden was in the Planalto Norte macroregion (179.56 DALYs/100,000 population, followed by the Nordeste macroregion (167.07 DALYs/100,000 population. CONCLUSIONS: In the majority of the health care macroregions of Santa Catarina, the burden of disease due to tuberculosis was concentrated in adult males, the level of that concentration varying among the various macroregions.

McArdle disease: a case report and review

Directory of Open Access Journals (Sweden)

Leite A

2012-01-01

Full Text Available Alberto Leite, Narciso Oliveira, Manuela RochaInternal Medicine Department, Hospital de Braga, PortugalAbstract: McArdle disease (glycogen storage disease type V is a pure myopathy caused by an inherited deficit of myophosphorylase. The disease exhibits clinical heterogeneity, but patients typically experience exercise intolerance, acute crises of early fatigue, and contractures, sometimes with rhabdomyolysis and myoglobinuria, triggered by static muscle contractions or dynamic exercise. We present the case of a 54-year-old man with a lifelong history of fatigability, worsening on exertion. Laboratory evaluation revealed significant elevations in levels of creatine kinase (7924 U/L, lactate dehydrogenase (624 U/L, and myoglobulin (671 ng/mL. A muscle biopsy confirmed the presence of McArdle disease. This case report illustrates how, due to embarrassment, the patient hid his symptoms for many years and was eventually extremely relieved and “liberated” once McArdle disease was diagnosed 40 years later.Keywords: McArdle disease, glycogen storage disease, myophosphorylase

Niemann-Pick disease

Science.gov (United States)

NPD; Sphingomyelinase deficiency; Lipid storage disorder - Niemann-Pick disease; Lysosomal storage disease - Niemann-Pick ... lipofuscinoses or Batten disease (Wolman disease, cholesteryl ... metabolism of lipids. In: Kliegman RM, Stanton BF, St. Geme JW, ...

Chitotriosidase activity as additional biomarker in the diagnosis of lysosomal storage diseases

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N. V. Olkhovych

2016-02-01

Full Text Available To date, several genetic variants that lead to a deficiency of chitotriosidase activity have been described. The duplication of 24 bp (dup24bp in exon 10 of the CHIT1 gene, which causes a complete loss of enzymatic activity of the gene product, is the most common among the European population. The aim of the study was to evaluate the possibility of using chitotriosidase activity as an additional biomarker in diagnosis of lysosomal storage diseases (LSDs in Ukraine, to determine this parameter in blood plasma of the patients with various lysosomal diseases and to assess the effect of the presence of dup24bp in the CHIT1 gene on this parameter. It has been shown that chitotriosidase activity in blood plasma is a convenient additional biochemical marker in the diagnosis of some LSDs, namely Gaucher disease, Niemann-Pick disease A, B, C and GM1-gangliosidosis. Reference ranges of the normal chitotriosidase activity were determined in blood plasma of Ukrainian population and found to be 8.0-53.1 nmol 4-methylumbelliferone/h·ml of plasma. The total allele frequency of the dup24bp in the CHIT1 gene in Ukrainian population was determined, which amounted to 0.26 (323/1244 that is higher than in European population. It was indicated that molecular-genetic screening of dup24bp in the CHIT1 gene is a necessary stage in a protocol for the laboratory diagnosis of Gaucher disease, Niemann-Pick disease A, B, C as well as GM1-gangliosidosis to avoid incorrect diagnosis.

Behçet disease and protein-losing enteropathy due to intestinal lymphangiectasia.

Science.gov (United States)

Rodríguez-Muguruza, Samantha; Caballero, Noemí; Horneros, Judith; Domenech, Eugeni; Mateo, Lourdes

2015-01-01

We report an unusual case of a patient with Behçet's disease that developed protein-losing enteropathy due to intestinal lymphangiectasia. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

Bell palsy in lyme disease-endemic regions of canada: a cautionary case of occult bilateral peripheral facial nerve palsy due to Lyme disease.

Science.gov (United States)

Ho, Karen; Melanson, Michel; Desai, Jamsheed A

2012-09-01

Lyme disease caused by the spirochete Borrelia burgdorferi is a multisystem disorder characterized by three clinical stages: dermatologic, neurologic, and rheumatologic. The number of known Lyme disease-endemic areas in Canada is increasing as the range of the vector Ixodes scapularis expands into the eastern and central provinces. Southern Ontario, Nova Scotia, southern Manitoba, New Brunswick, and southern Quebec are now considered Lyme disease-endemic regions in Canada. The use of field surveillance to map risk and endemic regions suggests that these geographic areas are growing, in part due to the effects of climate warming. Peripheral facial nerve palsy is the most common neurologic abnormality in the second stage of Lyme borreliosis, with up to 25% of Bell palsy (idiopathic peripheral facial nerve palsy) occurring due to Lyme disease. Here we present a case of occult bilateral facial nerve palsy due to Lyme disease initially diagnosed as Bell palsy. In Lyme disease-endemic regions of Canada, patients presenting with unilateral or bilateral peripheral facial nerve palsy should be evaluated for Lyme disease with serologic testing to avoid misdiagnosis. Serologic testing should not delay initiation of appropriate treatment for presumed Bell palsy.

Substandard care in maternal mortality due to hypertensive disease in pregnancy in the Netherlands

NARCIS (Netherlands)

Schutte, J. M.; Schuitemaker, N. W. E.; van Roosmalen, J.; Steegers, E. A. P.

Objective To review the standard of care in cases of maternal mortality due to hypertensive diseases in pregnancy and to make recommendations for its improvement. Design Care given to women with hypertensive disease in pregnancy was audited and substandard care factors identified. Setting

Transcription factor EB: from master coordinator of lysosomal pathways to candidate therapeutic target in degenerative storage diseases.

Science.gov (United States)

Sardiello, Marco

2016-05-01

The lysosome is the main catabolic hub of the cell. Owing to its role in fundamental processes such as autophagy, plasma membrane repair, mTOR signaling, and maintenance of cellular homeostasis, the lysosome has a profound influence on cellular metabolism and human health. Indeed, inefficient or impaired lysosomal function has been implicated in the pathogenesis of a number of degenerative diseases affecting various organs and tissues, most notably the brain, liver, and muscle. The discovery of the coordinated lysosomal expression and regulation (CLEAR) genetic program and its master controller, transcription factor EB (TFEB), has provided an unprecedented tool to study and manipulate lysosomal function. Most lysosome-based processes-including macromolecule degradation, autophagy, lysosomal exocytosis, and proteostasis-are under the transcriptional control of TFEB. Interestingly, impaired TFEB signaling has been suggested to be a contributing factor in the pathogenesis of several degenerative storage diseases. Preclinical studies based on TFEB exogenous expression to reinstate TFEB activity or promote CLEAR network-based lysosomal enhancement have highlighted TFEB as a candidate therapeutic target for the treatment of various degenerative storage diseases. © 2016 The Authors. Annals of the New York Academy of Sciences published by Wiley Periodicals, Inc. on behalf of New York Academy of Sciences.

Neutral lipid-storage disease with myopathy and extended phenotype with novel PNPLA2 mutation.

Science.gov (United States)

Massa, Roberto; Pozzessere, Simone; Rastelli, Emanuele; Serra, Laura; Terracciano, Chiara; Gibellini, Manuela; Bozzali, Marco; Arca, Marcello

2016-04-01

Neutral lipid-storage disease with myopathy is caused by mutations in PNPLA2, which produce skeletal and cardiac myopathy. We report a man with multiorgan neutral lipid storage and unusual multisystem clinical involvement, including cognitive impairment. Quantitative brain MRI with voxel-based morphometry and extended neuropsychological assessment were performed. In parallel, the coding sequences and intron/exon boundaries of the PNPLA2 gene were screened by direct sequencing. Neuropsychological assessment revealed global cognitive impairment, and brain MRI showed reduced gray matter volume in the temporal lobes. Molecular characterization revealed a novel homozygous mutation in exon 5 of PNPLA2 (c.714C>A), resulting in a premature stop codon (p.Cys238*). Some PNPLA2 mutations, such as the one described here, may present with an extended phenotype, including brain involvement. In these cases, complete neuropsychological testing, combined with quantitative brain MRI, may help to characterize and quantify cognitive impairment. © 2016 Wiley Periodicals, Inc.

Ischemic stroke due to embolic heart diseases and associated factors in Benin hospital setting.

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Gnonlonfoun, Dieudonné; Adjien, Constant; Gnimavo, Ronald; Goudjinou, Gérard; Hotcho, Corine; Nyangui Mapaga, Jennifer; Sowanou, Arlos; Gnigone, Pupchen; Domingo, Rodrigue; Houinato, Dismand

2018-04-15

Poor access to cardiovascular checkups is a major cause of ignorance of embolic heart diseases as the etiology for ischemic stroke. Study ischemic strokes due to embolic heart diseases and their associated factors. It was a cross-sectional, prospective, descriptive and analytical study conducted from November 1, 2014 to August 31, 2015 on 104 patients with ischemic stroke confirmed through brain imaging. Embolic heart diseases included arrhythmia due to atrial fibrillation (AF), atrial flutter, myocardial infarction (MI), heart valve diseases and atrial septal aneurysm (ASA). The dependent variable was embolic heart disease while independent variables encompassed socio-demographic factors, patients' history, and lifestyle. Data analysis was carried out through SAS 9.3. The rate of embolic heart diseases (EHD) as etiology for ischemic stroke was 26% (28/104). AF accounted for 69% of embolic heart diseases and 22.8% of etiologies for ischemic stroke. Ischemic strokes prevalence was 3.5%, 2.5% and 1.2% respectively for heart valve diseases, MI and ASA. The associated factor was age (p=0.000). The diagnosis of a potential cardiac source of embolism is essential because of therapeutic and prognostic implications. Wherefore, there is need for cardiovascular examination particularly Holter ECG and cardiac ultrasound examination which are not always accessible to our populations. Copyright © 2018 Elsevier B.V. All rights reserved.

Are generic and disease-specific health related quality of life correlated? The case of chronic lung disease due to sulfur mustard

Directory of Open Access Journals (Sweden)

Shervin Assari

2009-09-01

Full Text Available

• BACKGROUND: The aim of this study was to investigate the association between the two most commonly used generic and disease specific health-related quality of life (HRQoL measures in patients with chronic lung disease due to SM: Medical Outcomes Study Short Form 36-Item (SF-36 and St George's Respiratory Questionnaire (SGRQ.
• METHODS: This is a secondary analysis of Iranian Chemical Warfare Victims Health Assessment Study (ICWVHAS during October 2007 in Isfahan, Iran. In that survey, conducted in an outpatient setting, 292 patients with chronic lung disease due to SM were selected from all provinces in Iran. The total score and sub scores of correlations of SGRQ and SF-36 were assessed. Correlation of quality-of-life scores were evaluated using Pearson’s coefficient.
• RESULTS: Samples were 276 patients who were selected for our analysis. No significant correlation was found between the total score or sub scores of SF-36 and the total score or sub scores of SGRQ (p > 0.05.
• CONCLUSIONS: In patients with chronic lung disease due to SM, the SF-36 and SGRQ assess different aspects of HRQoL. Therefore applying both of them together, at least in the research setting is suggested.
• KEYWORDS: Chronic Lung Disease, Health Related Quality of Life, Generic Health Related Quality of Life, Disease Specific Health Related Quality of Life, Sulfur Mustard.

Increased lipogenesis and resistance of lipoproteins to oxidative modification in two patients with glycogen storage disease type 1a

NARCIS (Netherlands)

Bandsma, RHJ; Rake, JP; Visser, G; Neese, RA; Hellerstein, MK; van Duyvenvoorde, W; Princen, HMG; Stellaard, F; Smit, GPA; Kuipers, F

We describe 2 patients with glycogen storage disease type la and severe hyperlipidemia without premature atherosclerosis. Susceptibility of low-density lipoproteins to oxidation was decreased, possibly related to the similar to40-fold increase in palmitate synthesis altering lipoprotein saturated

Fuel-assembly behavior under dynamic impact loads due to dry-storage cask mishandling

International Nuclear Information System (INIS)

1991-07-01

Continued operation of nuclear power plants is contingent on the ability to provide adequate storage of spent fuel. Until recently, utilities have been able to maintain interim in-pool spent fuel storage. However, many facilities have reached their capacity and are now faced with shipping their spent fuel in dry casks to alternate storage facilities. The objective of this report is to provide estimates of the structural integrity of irradiated LWR fuel rods subjected to impact loads resulting from postulated cask handling accidents. This is accomplished in five stages: (1) Material properties for irradiated fuel are compiled for use in the structural analyses. (2) Results from parametric analyses of representative assembly designs are used to determine the most limiting case for end and side drop postulated handling accidents. (3) Detailed structural analysis results are presented for these critical designs. The detailed analyses include the coupling of assembly interaction with the cask and cask internals. (4) Criteria for both ultimate stress and brittle fracture failure modes of fuel rod cladding are established. (5) Safe cask handling drop height limits are computed based on items 2 through 4 above. 44 figs., 18 tabs

Hemorrhagic Cystitis due to BK Reactivation in a Young Female Treated for Hodgkin-Disease

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R. Le Calloch

2011-01-01

Full Text Available Hodgkin's lymphoma is a disease with a high rate of curability under classic chemo-radiotherapy regimes. Complications due to chemotherapy could include viral reactivation due to chronic lymphopenia. BK virus (BKV is a polyoma virus belonging to the Papovaviridae family with antibody seroprevalences in healthy populations varying from 60% to 80%. Initial infections are asymptomatic usually occur in early childhood, after which the viruses remain latent in the kidneys or urothelium. Reactivation of BKV occurs in individuals with severe immunosuppression during HIV infections, transplantation or, exceptionally, after classical chemotherapy. BKV incidence is approximately 0% to 5% in immunocompetent individuals. Reactivation is associated with nephropathy and haemorrhagic cystitis. Herein, we present a case of a haemorrhagic cystitis due to BKV reactivation in a patient with Hodgkin's disease treated with chemotherapy.

Acute urinary retention due to benign inflammatory nervous diseases.

Science.gov (United States)

Sakakibara, Ryuji; Yamanishi, Tomonori; Uchiyama, Tomoyuki; Hattori, Takamichi

2006-08-01

Both neurologists and urologists might encounter patients with acute urinary retention due to benign inflammatory nervous diseases. Based on the mechanism of urinary retention, these disorders can be divided into two subgroups: disorders of the peripheral nervous system (e.g., sacral herpes) or the central nervous system (e.g., meningitis-retention syndrome [MRS]). Laboratory abnormalities include increased herpes virus titers in sacral herpes, and increased myelin basic protein in the cerebrospinal fluid (CSF) in some cases with MRS. Urodynamic abnormality in both conditions is detrusor areflexia; the putative mechanism of it is direct involvement of the pelvic nerves in sacral herpes; and acute spinal shock in MRS. There are few cases with CSF abnormality alone. Although these cases have a benign course, management of the acute urinary retention is necessary to avoid bladder injury due to overdistension. Clinical features of sacral herpes or MRS differ markedly from those of the original "Elsberg syndrome" cases.

Socioeconomic inequalities in cause-specific mortality after disability retirement due to different diseases.

Science.gov (United States)

Polvinen, A; Laaksonen, M; Gould, R; Lahelma, E; Leinonen, T; Martikainen, P

2015-03-01

Socioeconomic inequalities in both disability retirement and mortality are large. The aim of this study was to examine socioeconomic differences in cause-specific mortality after disability retirement due to different diseases. We used administrative register data from various sources linked together by Statistics Finland and included an 11% sample of the Finnish population between the years 1987 and 2007. The data also include an 80% oversample of the deceased during the follow-up. The study included men and women aged 30-64 years at baseline and those who turned 30 during the follow-up. We used Cox regression analysis to examine socioeconomic differences in mortality after disability retirement. Socioeconomic differences in mortality after disability retirement were smaller than in the population in general. However, manual workers had a higher risk of mortality than upper non-manual employees after disability retirement due to mental disorders and cardiovascular diseases, and among men also diseases of the nervous system. After all-cause disability retirement, manual workers ran a higher risk of cardiovascular and alcohol-related death. However, among men who retired due to mental disorders or cardiovascular diseases, differences in social class were found for all causes of death examined. For women, an opposite socioeconomic gradient in mortality after disability retirement from neoplasms was found. Conclusions: The disability retirement process leads to smaller socioeconomic differences in mortality compared with those generally found in the population. This suggests that the disability retirement system is likely to accurately identify chronic health problems with regard to socioeconomic status. © 2014 the Nordic Societies of Public Health.

Recent development and gene therapy for glycogen storage disease type Ia.

Science.gov (United States)

Chou, Janice Y; Kim, Goo-Young; Cho, Jun-Ho

2017-09-01

Glycogen storage disease type Ia (GSD-Ia) is an autosomal recessive metabolic disorder caused by a deficiency in glucose-6-phosphatase-α (G6Pase-α or G6PC) that is expressed primarily in the liver, kidney, and intestine. G6Pase-α catalyzes the hydrolysis of glucose-6-phosphate (G6P) to glucose and phosphate in the terminal step of gluconeogenesis and glycogenolysis, and is a key enzyme for endogenous glucose production. The active site of G6Pase-α is inside the endoplasmic reticulum (ER) lumen. For catalysis, the substrate G6P must be translocated from the cytoplasm into the ER lumen by a G6P transporter (G6PT). The functional coupling of G6Pase-α and G6PT maintains interprandial glucose homeostasis. Dietary therapies for GSD-Ia are available, but cannot prevent the long-term complication of hepatocellular adenoma that may undergo malignant transformation to hepatocellular carcinoma. Animal models of GSD-Ia are now available and are being exploited to both delineate the disease more precisely and develop new treatment approaches, including gene therapy.

ACRR fuel storage racks criticality safety analysis

International Nuclear Information System (INIS)

Bodette, D.E.; Naegeli, R.E.

1997-10-01

This document presents the criticality safety analysis for a new fuel storage rack to support modification of the Annular Core Research Reactor for production of molybdenum-99 at Sandia National Laboratories, Technical Area V facilities. Criticality calculations with the MCNP code investigated various contingencies for the criticality control parameters. Important contingencies included mix of fuel element types stored, water density due to air bubbles or water level for the over-moderated racks, interaction with existing fuel storage racks and fuel storage holsters in the fuel storage pool, neutron absorption of planned rack design and materials, and criticality changes due to manufacturing tolerances or damage. Some limitations or restrictions on use of the new fuel storage rack for storage operations were developed through the criticality analysis and are required to meet the double contingency requirements of criticality safety. As shown in the analysis, this system will remain subcritical under all credible upset conditions. Administrative controls are necessary for loading, moving, and handling the storage rack as well as for control of operations around it. 21 refs., 16 figs., 4 tabs

Acoustically accessible window determination for ultrasound mediated treatment of glycogen storage disease type Ia patients

Science.gov (United States)

Wang, Shutao; Raju, Balasundar I.; Leyvi, Evgeniy; Weinstein, David A.; Seip, Ralf

2012-10-01

Glycogen storage disease type Ia (GSDIa) is caused by an inherited single-gene defect resulting in an impaired glycogen to glucose conversion pathway. Targeted ultrasound mediated delivery (USMD) of plasmid DNA (pDNA) to liver in conjunction with microbubbles may provide a potential treatment for GSDIa patients. As the success of USMD treatments is largely dependent on the accessibility of the targeted tissue by the focused ultrasound beam, this study presents a quantitative approach to determine the acoustically accessible liver volume in GSDIa patients. Models of focused ultrasound beam profiles for transducers of varying aperture and focal lengths were applied to abdomen models reconstructed from suitable CT and MRI images. Transducer manipulations (simulating USMD treatment procedures) were implemented via transducer translations and rotations with the intent of targeting and exposing the entire liver to ultrasound. Results indicate that acoustically accessible liver volumes can be as large as 50% of the entire liver volume for GSDIa patients and on average 3 times larger compared to a healthy adult group due to GSDIa patients' increased liver size. Detailed descriptions of the evaluation algorithm, transducer-and abdomen models are presented, together with implications for USMD treatments of GSDIa patients and transducer designs for USMD applications.

Neuroimaging of Lipid Storage Disorders

Science.gov (United States)

Rieger, Deborah; Auerbach, Sarah; Robinson, Paul; Gropman, Andrea

2013-01-01

Lipid storage diseases, also known as the lipidoses, are a group of inherited metabolic disorders in which there is lipid accumulation in various cell types, including the central nervous system, because of the deficiency of a variety of enzymes. Over time, excessive storage can cause permanent cellular and tissue damage. The brain is particularly…

Clinical presentation and biochemical findings children with glycogen storage disease type 1A

International Nuclear Information System (INIS)

Saeed, A.; Suleman, H.; Arshad, H.

2015-01-01

To determine the clinical pattern of presentation and biochemical characteristics of glycogen storage disease (GSD) type 1a in children at a tertiary referral centre. Study Design: Descriptive/ cross sectional study. Place and Duration of Study: Department of Pediatric, division of Gastroenterology and Hepatology of the Children's hospital, Lahore over a period of 11 years. Patients and Methods: Confirmed cases of glycogen storage disease (clinical plus biochemical findings consistent with GSD 1a and proven on liver biopsy) were enrolled in this study from neonatal age till 18 years. Data was retrieved from files and electronic record for these cases. Diagnosis was made on the basis of history, clinical findings including hepatomegaly, hypertriglyceridemia, hypercholesterolemia, hypoglycemia and hyperuricemia (if present). Diagnosis was confirmed on liver biopsy. Patients with other storage disorders and benign and malignant tumours were excluded from the study. Results: Total patients included in the study were 360 with male to female ratio of 1.25:1. Median age at the time of diagnosis was 25.6 months (age range from one month to 18 years). Most common presentation was abdominal distension (83%) followed by failure to thrive (69%) and recurrent wheezing and diarrhoea (44%) each. Seizures were present in only 1/3rd of children. Other presentations included vomiting, respiratory distress, altered sensorium, nephrocalcinosis, epistaxis and hypothyroidism. Few patients around 11% presented with acute hepatitis and later were diagnosed as GSD. Significant hepatomegaly was evident in almost all patients but nephromegaly was present in only 5.5% patients. All children had marked hypertriglyceridemia but cholesterol levels were raised in 1/3rd of children. A large majority of children had deranged ALT more than 2 times of normal and around 38% children had marked anemia. Significant hypoglycemia and metabolic acidosis was documented in around 1/3rd of children

Adeno-Associated Virus-Mediated Correction of a Canine Model of Glycogen Storage Disease Type Ia

OpenAIRE

Weinstein, David A.; Correia, Catherine E.; Conlon, Thomas; Specht, Andrew; Verstegen, John; Onclin-Verstegen, Karine; Campbell-Thompson, Martha; Dhaliwal, Gurmeet; Mirian, Layla; Cossette, Holly; Falk, Darin J.; Germain, Sean; Clement, Nathalie; Porvasnik, Stacy; Fiske, Laurie

2010-01-01

This study by the groups of Drs. Barry Byrne and Cathryn Mah at the University of Florida examines the safety and efficacy of AAV-mediated gene delivery in a canine model of glycogen storage disease type Ia (GSDIa). The authors find that intraportal delivery of AAV8 encoding glucose-6-phosphatase-α (G6Pase) followed 20 weeks later by intraportal administration of AAV1 encoding G6Pase led to significant correction of the GSDIa phenotype.

The clinicopathology and pathology of selective toxicoses and storage diseases of the nervous system of ruminants in Southern Africa

NARCIS (Netherlands)

Lugt, Jacob Jan van der

2002-01-01

In this study the clinical signs and pathology of five plant poisonings and a mycotoxicosis affecting the nervous system of domestic ruminants in southern Africa are described. For comparative purposes, an inherited storage disease (bèta-mannosidosis) and a drug-induced neurotoxicosis (closantel

Characterization of a canine model of glycogen storage disease type IIIa

Directory of Open Access Journals (Sweden)

Haiqing Yi

2012-11-01

Glycogen storage disease type IIIa (GSD IIIa is an autosomal recessive disease caused by deficiency of glycogen debranching enzyme (GDE in liver and muscle. The disorder is clinically heterogeneous and progressive, and there is no effective treatment. Previously, a naturally occurring dog model for this condition was identified in curly-coated retrievers (CCR. The affected dogs carry a frame-shift mutation in the GDE gene and have no detectable GDE activity in liver and muscle. We characterized in detail the disease expression and progression in eight dogs from age 2 to 16 months. Monthly blood biochemistry revealed elevated and gradually increasing serum alanine transaminase (ALT, aspartate transaminase (AST and alkaline phosphatase (ALP activities; serum creatine phosphokinase (CPK activity exceeded normal range after 12 months. Analysis of tissue biopsy specimens at 4, 12 and 16 months revealed abnormally high glycogen contents in liver and muscle of all dogs. Fasting liver glycogen content increased from 4 months to 12 months, but dropped at 16 months possibly caused by extended fibrosis; muscle glycogen content continually increased with age. Light microscopy revealed significant glycogen accumulation in hepatocytes at all ages. Liver histology showed progressive, age-related fibrosis. In muscle, scattered cytoplasmic glycogen deposits were present in most cells at 4 months, but large, lake-like accumulation developed by 12 and 16 months. Disruption of the contractile apparatus and fraying of myofibrils was observed in muscle at 12 and 16 months by electron microscopy. In conclusion, the CCR dogs are an accurate model of GSD IIIa that will improve our understanding of the disease progression and allow opportunities to investigate treatment interventions.

Lost life years due to premature mortality caused by diseases of the respiratory system.

Science.gov (United States)

Maniecka-Bryła, Irena; Paciej-Gołębiowska, Paulina; Dziankowska-Zaborszczyk, Elżbieta; Bryła, Marek

2018-06-04

In Poland, as in most other European countries, diseases of the respiratory system are the 4th leading cause of mortality; they are responsible for about 8% of all deaths in the European Union (EU) annually. To assess the socio-economic aspects of mortality, it has become increasingly common to apply potential measures rather than conventionally used ratios. The aim of this study was to analyze years of life lost due to premature deaths caused by diseases of the respiratory system in Poland from 1999 to 2013. The study was based on a dataset of 5,606,516 records, obtained from the death certificates of Polish residents who died between 1999 and 2013. The information on deaths caused by diseases of the respiratory system, i.e., coded as J00-J99 according to the International Statistical Classification of Diseases and Related Health Problems, 10th revision (ICD-10), was analyzed. The Standard Expected Years of Life Lost (SEYLL) indicator was used in the study. In the years 1999-2013, the Polish population suffered 280,519 deaths caused by diseases of the respiratory system (4.69% of all deaths). In the period analyzed, a gradual decrease in the standardized death rate was observed - from 46.31 per 100,000 inhabitants in 1999 to 41.02 in 2013. The dominant causes of death were influenza and pneumonia (J09-J18) and chronic lower respiratory diseases (J40-J47). Diseases of the respiratory system were the cause of 4,474,548.92 lost life years. The Standard Expected Years of Life Lost per person (SEYLLp) was 104.72 per 10,000 males and 52.85 per 10,000 females. The Standard Expected Years of Life Lost per death (SEYLLd) for people who died due to diseases of the respiratory system was 17.54 years of life on average for men and 13.65 years on average for women. The use of the SEYLL indicator provided significant information on premature mortality due to diseases of the respiratory system, indicating the fact that they play a large role in the health status of the Polish

Massive pericardial effusion without cardiac tamponade due to subclinical hypothyroidism (Hashimoto's disease).

Science.gov (United States)

Papakonstantinou, Panteleimon E; Gourniezakis, Nikolaos; Skiadas, Christos; Patrianakos, Alexandros; Gikas, Achilleas

2018-05-01

Hypothyroidism is a significant cause of pericardial effusion. However, large pericardial effusions due to hypothyroidism are extremely rare. Hormone replacement therapy is the cornerstone of treatment for hypothyroidism and regular follow-up of patients after initiation of the therapy is indicated. Herein, the case of a 70-year-old woman with a massive pericardial effusion due to Hashimoto's disease is presented. A 70-year-old female from a rural village on the island of Crete, Greece, was admitted to our hospital due to a urinary tract infection. She was under hormone replacement therapy with levothyroxine 100 µg once a day for Hashimoto's disease. Two years previously, the patient had had an episode of pericarditis due to hypothyroidism and had undergone a computed tomography-guided pericardiocentesis. The patient did not have regular follow-up and did not take the hormone replacement therapy properly. On admission, the patient's chest X-ray incidentally showed a possible pericardial effusion. The patient was referred for echocardiography, which revealed a massive pericardial effusion. Beck's triad was absent. Thyroid hormones were consistent with subclinical hypothyroidism: thyroid-stimulating hormone (TSH) 30.25 mIU/mL (normal limits: 0.25-3.43); free thyroxin 4 0.81 ng/dL (normal limits: 0.7-1.94). The patient had a score of 5 on the scale outlined by the European Society of Cardiology (ESC) position statement on triage strategy for cardiac tamponade and, despite the absence of cardiac tamponade, a pericardiocentesis was performed after 48 hours. The patient was treated with 125 µg levothyroxine orally once daily. This was a rare case of an elderly female patient from a rural village with chronic massive pericardial effusion due to subclinical hypothyroidism without cardiac tamponade. Hypothyroidism should be included in the differential diagnosis of pericardial effusion, especially in a case of unexplained pericardial fluid. Initiation of hormone

Lipid Storage Diseases

Science.gov (United States)

... Institutes of Health (NIH), the leading supporter of biomedical research in the world. As part of its mission, ... develop treatments, which has enabled ongoing and promising research to develop gene therapy for this disease. The NINDS, along with other ...

[Inflammatory pancreatic disease due to enzyme autodigestion: an exceptional model of glandular crinophagy].

Science.gov (United States)

Sánchez-Fayos Calabuig, P; Martín Relloso, M Jesús; González Guirado, Agustina; Porres Cubero, Juan Carlos

2007-01-01

The exocrine pancreas is a functionally dangerous structure since it is exposed to digestion by its most aggressive enzymes (proteases, etc) despite self-protective measures such as the synthesis of some of these enzymes in the form of inactive zymogens (trypsinogen, etc.). We review inflammatory pancreatic disease by separately analyzing its classical forms of onset: acute and chronic pancreatitis (AP and CP). There is general consensus that the initial pathogenic event in AP is intraacinar activation of trypsinogen into trypsin, followed by that of the remaining proenzymes, giving rise to an unusual model of autophagic inflammation. In contrast, consensus is lacking on the initial pathogenic event in CP (toxic-metabolic lesion, oxidative stress, ductal hypertension, etc.?), although in some cases a sequence due to recurrent episodes of AP seems evident. The pathogenic features shared by both forms of the disease and which justify some recent attempts to formulate an overall explanation of the pathogenesis of pancreatitis are discussed. Such an explanation would place both forms of pancreatitis within the conceptual framework of an pancreatic disease due to enzyme autodigestion>.

Intrathecal enzyme replacement therapy reduces lysosomal storage in the brain and meninges of the canine model of MPS I.

Science.gov (United States)

Kakkis, E; McEntee, M; Vogler, C; Le, S; Levy, B; Belichenko, P; Mobley, W; Dickson, P; Hanson, S; Passage, M

2004-01-01

Enzyme replacement therapy (ERT) has been developed for several lysosomal storage disorders, including mucopolysaccharidosis I (MPS I), and is effective at reducing lysosomal storage in many tissues and in ameliorating clinical disease. However, intravenous ERT does not adequately treat storage disease in the central nervous system (CNS), presumably due to effects of the blood-brain barrier on enzyme distribution. To circumvent this barrier, we studied whether intrathecal (IT) recombinant human alpha-L-iduronidase (rhIDU) could penetrate and treat the brain and meninges. An initial dose-response study showed that doses of 0.46-4.14 mg of IT rhIDU successfully penetrated the brain of normal dogs and reached tissue levels 5.6 to 18.9-fold normal overall and 2.7 to 5.9-fold normal in deep brain sections lacking CSF contact. To assess the efficacy and safety in treating lysosomal storage disease, four weekly doses of approximately 1 mg of IT rhIDU were administered to MPS I-affected dogs resulting in a mean 23- and 300-fold normal levels of iduronidase in total brain and meninges, respectively. Quantitative glycosaminoglycan (GAG) analysis showed that the IT treatment reduced mean total brain GAG to normal levels and achieved a 57% reduction in meningeal GAG levels accompanied by histologic improvement in lysosomal storage in all cell types. The dogs did develop a dose-dependent immune response against the recombinant human protein and a meningeal lymphocytic/plasmacytic infiltrate. The IT route of ERT administration may be an effective way to treat the CNS disease in MPS I and could be applicable to other lysosomal storage disorders.

Adhesive small bowel obstruction due to pelvic inflammatory disease: A case report

Directory of Open Access Journals (Sweden)

Razan A Al-Ghassab

2018-01-01

Full Text Available We report a rare case of a 32-year-old woman with adhesive small bowel obstruction due to pelvic inflammatory disease. She had no history of abdominal surgery, gynecological complaints or constitutional symptoms of chronic illness. The diagnosis was based on the laparoscopic findings of small bowel adhesions, free peritoneal fluid, “violin string” adhesions of Fitz-Hugh–Curtis syndrome and left hydrosalpinx. Laparoscopic adhesiolysis was performed successfully, and the patient had an uneventful postoperative course. The authors conclude that pelvic inflammatory disease should be included as a cause of adhesive small bowel obstruction in sexually active young women with no history of abdominal surgery or constitutional symptoms of chronic disease. When performed by experienced surgeons, laparoscopy in such patients is feasible and safe.

Non-fatal burden of disease due to mental disorders in the Netherlands.

NARCIS (Netherlands)

Lokkerbol, J.; de Graaf, R.; ten Have, M.; Cuijpers, P.; Beekman, A.; Weehuizen, R.; Smit, H.F.E.

2013-01-01

Purpose: To estimate the disease burden due to 15 mental disorders at both individual and population level. Methods: Using a population-based survey (Nemesis, N = 7,056) the number of years lived with disability per one million population were assessed. This was done with and without adjustment for

Number of deaths due to lung diseases: How large is the problem?

International Nuclear Information System (INIS)

Wagener, D.K.

1990-01-01

The importance of lung disease as an indicator of environmentally induced adverse health effects has been recognized by inclusion among the Health Objectives for the Nation. The 1990 Health Objectives for the Nation (US Department of Health and Human Services, 1986) includes an objective that there should be virtually no new cases among newly exposed workers for four preventable occupational lung diseases-asbestosis, byssinosis, silicosis, and coal workers' pneumoconiosis. This brief communication describes two types of cause-of-death statistics- underlying and multiple cause-and demonstrates the differences between the two statistics using lung disease deaths among adult men. The choice of statistic has a large impact on estimated lung disease mortality rates. The choice of statistics also may have large effect on the estimated mortality rates due to other chromic diseases thought to be environmentally mediated. Issues of comorbidity and the way causes of death are reported become important in the interpretation of these statistics. The choice of which statistic to use when comparing data from a study population with national statistics may greatly affect the interpretations of the study findings

Treatment options for patients with Gaucher disease | Shawky ...

African Journals Online (AJOL)

Gaucher disease is the most common lysosomal storage disorder due to deficiency of ß-glucocerebrosidase. Since the introduction of Ceredase in 1991, enzyme replacement therapy has been the mainstay of treatment with its major disadvantage of long life dependency on biweekly IV therapy. It was more than a decade ...

Sugammadex use in difficult intubation due to ankylosing spondylitis and severe restrictive respiratory disease

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Yakup Tomak

2012-09-01

Full Text Available We describe anesthesia management of a 50-year-old man scheduled for thoracic spinal reconstruction, presenting with severe restrictive respiratory disease and difficult airway due to ankylosing spondilitis. The patient was unable to extend his head, had difficulty in breathing and sleeping in supine position due to thoracal deformities. The patient was intubated using intubating laryngeal mask airway to overcome the difficulties of limited mouth opening and head extension. He was extubated following administration of sugammadex to obtain optimal conditions in terms of respiratory muscle function and to prevent hypersecretion and bronchospasm. J Clin Exp Invest 2012; 3 (3: 398-400Key words: Restrictive lung disease, airway management, laryngeal masks, sugammadex, ankylosing spondylitis

Effect of Different Storage Temperatures on the Efficacy of the Bivalent Foot and Mouth Disease Oil Vaccine

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Ehab El-Sayed

2012-07-01

Full Text Available The storage stability of locally produced double oil emulsion adjuvant bivalent Foot and mouth disease (FMD vaccine prepared from type O1/Aga/ EGY/93 strain and A/EGY/1/2006 had been determined depending on its shelf life in different storage temperatures during the registration of this vaccine by the Central Laboratory for Evaluation of Veterinary Biologics, Abbasia, Cairo. Samples of this vaccine were kept at 4°C for period of 27 months; at 25°C for 5 weeks and at 37°C for 3 weeks. The potency of these vaccine samples was evaluated in guinea pigs as laboratory animal's model. The obtained results confirmed that the vaccine keep its potency beyond the normal conservation period at 4°C for two years with 100% protection against challenge with FMDV O1/Aga/EGY/93 and at 25°C for 3 weeks and at 37°C for 1 week, showing 80% protection when storage of the vaccine at 25°C for 4 weeks; at 37°C for 2 weeks. On challenge with A/EGY/1/2006 the vaccine gave 100% protection when storage at 4°C for 21 months; at 25°C for 2 weeks and at 37°C for 1 week. Otherwise it gave 80% protection when storage at 4°C for 24 months; at 25°C for 3 weeks and at 37°C for 2 weeks then became invalid after 27 months at 4°C; after 4 weeks at 25°C and for 3 weeks at 37°C. So it could be concluded that 4°C is the best temperature of choice for storage of the oil inactivated bivalent FMD vaccine.

Knowns and unknowns on burden of disease due to chemicals: a systematic review

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Bertollini Roberto

2011-01-01

Full Text Available Abstract Background Continuous exposure to many chemicals, including through air, water, food, or other media and products results in health impacts which have been well assessed, however little is known about the total disease burden related to chemicals. This is important to know for overall policy actions and priorities. In this article the known burden related to selected chemicals or their mixtures, main data gaps, and the link to public health policy are reviewed. Methods A systematic review of the literature for global burden of disease estimates from chemicals was conducted. Global disease due to chemicals was estimated using standard methodology of the Global Burden of Disease. Results In total, 4.9 million deaths (8.3% of total and 86 million Disability-Adjusted Life Years (DALYs (5.7% of total were attributable to environmental exposure and management of selected chemicals in 2004. The largest contributors include indoor smoke from solid fuel use, outdoor air pollution and second-hand smoke, with 2.0, 1.2 and 0.6 million deaths annually. These are followed by occupational particulates, chemicals involved in acute poisonings, and pesticides involved in self-poisonings, with 375,000, 240,000 and 186,000 annual deaths, respectively. Conclusions The known burden due to chemicals is considerable. This information supports decision-making in programmes having a role to play in reducing human exposure to toxic chemicals. These figures present only a number of chemicals for which data are available, therefore, they are more likely an underestimate of the actual burden. Chemicals with known health effects, such as dioxins, cadmium, mercury or chronic exposure to pesticides could not be included in this article due to incomplete data and information. Effective public health interventions are known to manage chemicals and limit their public health impacts and should be implemented at national and international levels.

Knowns and unknowns on burden of disease due to chemicals: a systematic review

Science.gov (United States)

2011-01-01

Background Continuous exposure to many chemicals, including through air, water, food, or other media and products results in health impacts which have been well assessed, however little is known about the total disease burden related to chemicals. This is important to know for overall policy actions and priorities. In this article the known burden related to selected chemicals or their mixtures, main data gaps, and the link to public health policy are reviewed. Methods A systematic review of the literature for global burden of disease estimates from chemicals was conducted. Global disease due to chemicals was estimated using standard methodology of the Global Burden of Disease. Results In total, 4.9 million deaths (8.3% of total) and 86 million Disability-Adjusted Life Years (DALYs) (5.7% of total) were attributable to environmental exposure and management of selected chemicals in 2004. The largest contributors include indoor smoke from solid fuel use, outdoor air pollution and second-hand smoke, with 2.0, 1.2 and 0.6 million deaths annually. These are followed by occupational particulates, chemicals involved in acute poisonings, and pesticides involved in self-poisonings, with 375,000, 240,000 and 186,000 annual deaths, respectively. Conclusions The known burden due to chemicals is considerable. This information supports decision-making in programmes having a role to play in reducing human exposure to toxic chemicals. These figures present only a number of chemicals for which data are available, therefore, they are more likely an underestimate of the actual burden. Chemicals with known health effects, such as dioxins, cadmium, mercury or chronic exposure to pesticides could not be included in this article due to incomplete data and information. Effective public health interventions are known to manage chemicals and limit their public health impacts and should be implemented at national and international levels. PMID:21255392

Cushing syndrome in a young woman due to primary pigmented nodular adrenal disease.

Science.gov (United States)

Hackman, Kathryn L; Davis, Anna L; Curnow, Paul A; Serpell, Jonathan W; McLean, Catriona A; Topliss, Duncan J

2010-01-01

To report a case of Cushing syndrome due to apparently sporadic primary pigmented nodular adrenal disease in a young woman. We describe the clinical, biochemical, radiologic, and histologic findings of Cushing syndrome due to the rare condition of primary pigmented nodular adrenal disease. A 30-year-old woman presented with a 2-year history of worsening itch without rash over her shoulders and arms and weight gain, particularly around the abdomen and face. Careful questioning did not elicit any history of exogenous glucocorticoid use (systemic or topical), including hydrocortisone. On examination, the patient had a slightly rounded and plethoric face, a small buffalo hump, central adiposity, and thin skin with a few small striae on her inner thighs. No features of the Carney complex were observed. Investigations showed hypercortisolism with suppressed corticotropin and normal adrenal imaging despite documentation of enlarged adrenal glands at removal. High-dose dexamethasone administration was followed by a decrease in urinary free cortisol excretion rather than a paradoxical rise as previously reported in primary pigmented nodular adrenal disease. No mutations were detected in the PRKAR1A gene. Primary pigmented nodular adrenal disease should be suspected in patients with corticotropin-independent Cushing syndrome who have normal adrenal imaging. The role of genetic testing in apparently sporadic cases is not established, but cumulative experience may be helpful in defining the frequency of PRKAR1A mutations.

Lipids in hepatic glycogen storage diseases: pathophysiology, monitoring of dietary management and future directions.

Science.gov (United States)

Derks, Terry G J; van Rijn, Margreet

2015-05-01

Hepatic glycogen storage diseases (GSD) underscore the intimate relationship between carbohydrate and lipid metabolism. The hyperlipidemias in hepatic GSD reflect perturbed intracellular metabolism, providing biomarkers in blood to monitor dietary management. In different types of GSD, hyperlipidemias are of a different origin. Hypertriglyceridemia is most prominent in GSD type Ia and associated with long-term outcome morbidity, like pancreatitis and hepatic adenomas. In the ketotic subtypes of GSD, hypertriglyceridemia reflects the age-dependent fasting intolerance, secondary lipolysis and increased mitochondrial fatty acid oxidation. The role of high protein diets is established for ketotic types of GSD, but non-traditional dietary interventions (like medium-chain triglycerides and the ketogenic diet) in hepatic GSD are still controversial and necessitate further studies. Patients with these rare inherited disorders of carbohydrate metabolism meet several criteria of the metabolic syndrome, therefore close monitoring for cardiovascular diseases in ageing GSD patients may be justified.

Amyloidosis, synucleinopathy, and prion encephalopathy in a neuropathic lysosomal storage disease: the CNS-biomarker potential of peripheral blood.

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Bartholomew J Naughton

Full Text Available Mucopolysaccharidosis (MPS IIIB is a devastating neuropathic lysosomal storage disease with complex pathology. This study identifies molecular signatures in peripheral blood that may be relevant to MPS IIIB pathogenesis using a mouse model. Genome-wide gene expression microarrays on pooled RNAs showed dysregulation of 2,802 transcripts in blood from MPS IIIB mice, reflecting pathological complexity of MPS IIIB, encompassing virtually all previously reported and as yet unexplored disease aspects. Importantly, many of the dysregulated genes are reported to be tissue-specific. Further analyses of multiple genes linked to major pathways of neurodegeneration demonstrated a strong brain-blood correlation in amyloidosis and synucleinopathy in MPS IIIB. We also detected prion protein (Prnp deposition in the CNS and Prnp dysregulation in the blood in MPS IIIB mice, suggesting the involvement of Prnp aggregation in neuropathology. Systemic delivery of trans-BBB-neurotropic rAAV9-hNAGLU vector mediated not only efficient restoration of functional α-N-acetylglucosaminidase and clearance of lysosomal storage pathology in the central nervous system (CNS and periphery, but also the correction of impaired neurodegenerative molecular pathways in the brain and blood. Our data suggest that molecular changes in blood may reflect pathological status in the CNS and provide a useful tool for identifying potential CNS-specific biomarkers for MPS IIIB and possibly other neurological diseases.

The global burden of disease due to outdoor air pollution.

Science.gov (United States)

Cohen, Aaron J; Ross Anderson, H; Ostro, Bart; Pandey, Kiran Dev; Krzyzanowski, Michal; Künzli, Nino; Gutschmidt, Kersten; Pope, Arden; Romieu, Isabelle; Samet, Jonathan M; Smith, Kirk

As part of the World Health Organization (WHO) Global Burden of Disease Comparative Risk Assessment, the burden of disease attributable to urban ambient air pollution was estimated in terms of deaths and disability-adjusted life years (DALYs). Air pollution is associated with a broad spectrum of acute and chronic health effects, the nature of which may vary with the pollutant constituents. Particulate air pollution is consistently and independently related to the most serious effects, including lung cancer and other cardiopulmonary mortality. The analyses on which this report is based estimate that ambient air pollution, in terms of fine particulate air pollution (PM(2.5)), causes about 3% of mortality from cardiopulmonary disease, about 5% of mortality from cancer of the trachea, bronchus, and lung, and about 1% of mortality from acute respiratory infections in children under 5 yr, worldwide. This amounts to about 0.8 million (1.2%) premature deaths and 6.4 million (0.5%) years of life lost (YLL). This burden occurs predominantly in developing countries; 65% in Asia alone. These estimates consider only the impact of air pollution on mortality (i.e., years of life lost) and not morbidity (i.e., years lived with disability), due to limitations in the epidemiologic database. If air pollution multiplies both incidence and mortality to the same extent (i.e., the same relative risk), then the DALYs for cardiopulmonary disease increase by 20% worldwide.

A mouse model for fucosidosis recapitulates storage pathology and neurological features of the milder form of the human disease

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Heike Wolf

2016-09-01

Full Text Available Fucosidosis is a rare lysosomal storage disorder caused by the inherited deficiency of the lysosomal hydrolase α-L-fucosidase, which leads to an impaired degradation of fucosylated glycoconjugates. Here, we report the generation of a fucosidosis mouse model, in which the gene for lysosomal α-L-fucosidase (Fuca1 was disrupted by gene targeting. Homozygous knockout mice completely lack α-L-fucosidase activity in all tested organs leading to highly elevated amounts of the core-fucosylated glycoasparagine Fuc(α1,6-GlcNAc(β1-N-Asn and, to a lesser extent, other fucosylated glycoasparagines, which all were also partially excreted in urine. Lysosomal storage pathology was observed in many visceral organs, such as in the liver, kidney, spleen and bladder, as well as in the central nervous system (CNS. On the cellular level, storage was characterized by membrane-limited cytoplasmic vacuoles primarily containing water-soluble storage material. In the CNS, cellular alterations included enlargement of the lysosomal compartment in various cell types, accumulation of secondary storage material and neuroinflammation, as well as a progressive loss of Purkinje cells combined with astrogliosis leading to psychomotor and memory deficits. Our results demonstrate that this new fucosidosis mouse model resembles the human disease and thus will help to unravel underlying pathological processes. Moreover, this model could be utilized to establish diagnostic and therapeutic strategies for fucosidosis.

Urinary free light chains may help to identify infection in patients with elevated systemic inflammation due to rheumatic disease.

Science.gov (United States)

Bramlage, Carsten P; Froelich, Britta; Wallbach, Manuel; Minguet, Joan; Grupp, Clemens; Deutsch, Cornelia; Bramlage, Peter; Müller, Gerhard A; Koziolek, Michael

2017-04-01

The risk of infection in patients with rheumatic diseases is elevated, but a clear marker to differentiate the cause of the systemic inflammation is missing. We assessed the ability urinary immunoglobulin free light chains (FLCs) to indicate the presence of infection in patients with rheumatic disease. We performed a retrospective analysis of patients with rheumatic disease attending the Georg-August University Hospital in Goettingen, Germany, from January 2011 to December 2013. Subjects were included if they had urine levels of κ and λ FLCs available. A reference group of patients without autoimmune disease, but with documented infection, was constructed. A total of 1500 patients had their urinary FLCs quantified during the study period. Of the 382 patients with rheumatic disease, 172 (45%) displayed no systemic inflammation, 162 (42%) had inflammation due to the underlying disease activity, and 48 (13%) had inflammation due to a confirmed infection. Urinary FLC concentrations were much higher in patients with rheumatic diseases and infection (κ 68.8 ± 81.8 mg/L, λ 31.4 ± 53.5 mg/L) compared to those with inflammation due to rheumatic disease activity (κ 22.7 ± 26.3 mg/L, λ 8.1 ± 9.1 mg/L, κ p rheumatic disease activity from that due to the additional presence of infection. The ability to quantify these proteins in urine provides a simple alternative to the use of blood.

Investigation on Solar Heating System with Building-Integrated Heat Storage

DEFF Research Database (Denmark)

Heller, Alfred

1996-01-01

Traditional solar heating systems cover between 5 and 10% of the heat demand fordomestic hot water and comfort heating. By applying storage capacity this share can beincreased much. The Danish producer of solar heating systems, Aidt-Miljø, markets such a system including storage of dry sand heated...... by PP-pipe heat exchanger. Heat demand is reduced due to direct solar heating and due to storage. The storage affects the heat demand passively due to higher temperatures. Hence heat loss is reduced and passive heating is optioned. In theory, by running the system flow backwards, active heating can...... solar collector area of the system, was achieved. Active heating from the sand storage was not observed. The pay-back time for the system can be estimated to be similar to solar heated domestic hot water systems in general. A number of minor improvements on the system could be pointed out....

[Treatment of hyperthyroidism due to Graves' disease: what is the recommended antithyroid drug during pregnancy?].

Science.gov (United States)

Caron, P

2013-05-01

Clinical hyperthyroidism during the first trimester of pregnancy due to Graves' disease can be associated with maternal, obstetrical and fetal complications, indicating an active treatment to restore normal thyroid function. Antithyroid drugs are the first line treatment in pregnant women with hyperthyroidism. Due to the increased congenital malformations reported in neonates after first-trimester carbimazole/methimazole treatment and propylthiouracil associated hepatotoxicity, the recommended treatment for pregnant women with hyperthyroid Graves' disease is propylthiouracil during the first trimester of pregnancy and following the first trimester, consideration should be given switching to carbimazole/methimazole during the second part of gestation. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype.

NARCIS (Netherlands)

Delnooz, C.C.S.; Lefeber, D.J.; Langemeijer, S.M.C.; Hoffjan, S.; Dekomien, G.; Zwarts, M.J.; Engelen, B.G.M. van; Wevers, R.A.; Schelhaas, H.J.; Warrenburg, B.P.C. van de

2010-01-01

Sandhoff disease is a lipid-storage disorder caused by a defect in ganglioside metabolism. It is caused by a lack of functional N-acetyl-beta-d-glucosaminidase A and B due to mutations in the HEXB gene. Typical, early-onset Sandhoff disease presents before 9 months of age with progressive

Mortality due to Cardiovascular Diseases in Women and Men in the Five Brazilian Regions, 1980-2012

Directory of Open Access Journals (Sweden)

Antonio de Padua Mansur

2016-01-01

Full Text Available Abstract Background: Studies have shown different mortalities due to cardiovascular diseases (CVD, ischemic heart disease (IHD and cerebrovascular diseases (CbVD in the five Brazilian regions. Socioeconomic conditions of those regions are frequently used to justify differences in mortality due to those diseases. In addition, studies have shown a reduction in the differences between the mortality rates of the five Brazilian regions. Objective: To update CVD mortality data in women and men in the five Brazilian regions. Methods: Mortality and population data were obtained from the Brazilian Institute of Geography and Statistics and Ministry of Health. Risk of death was adjusted by use of the direct method, with the 2000 world standard population as reference. We analyzed trends in mortality due to CVD, IHD and CbVD in women and men aged ≥ 30 years in the five Brazilian regions from 1980 to 2012. Results: Mortality due to: 1 CVD: showed reduction in the Northern, West-Central, Southern and Southeastern regions; increase in the Northeastern region; 2 IHD: reduction in the Southeastern and Southern regions; increase in the Northeastern region; and unchanged in the Northern and West-Central regions; 3 CbVD: reduction in the Southern, Southeastern and West-Central regions; increase in the Northeastern region; and unchanged in Northern region. There was also a convergence in mortality trends due to CVD, IHD, and CbVD in the five regions. Conclusion: The West-Central, Northern and Northeastern regions had the worst trends in CVD mortality as compared to the Southeastern and Southern regions. (Arq Bras Cardiol. 2016; [online].ahead print, PP.0-0

Evaporative cooling enhanced cold storage system

Science.gov (United States)

Carr, P.

1991-10-15

The invention provides an evaporatively enhanced cold storage system wherein a warm air stream is cooled and the cooled air stream is thereafter passed into contact with a cold storage unit. Moisture is added to the cooled air stream prior to or during contact of the cooled air stream with the cold storage unit to effect enhanced cooling of the cold storage unit due to evaporation of all or a portion of the added moisture. Preferably at least a portion of the added moisture comprises water condensed during the cooling of the warm air stream. 3 figures.

Genetics Home Reference: glycogen storage disease type III

Science.gov (United States)

... GSDIIIa is the most common form of GSDIII, accounting for about 85 percent of all cases. GSDIIIb ... to the production of an enzyme with reduced function. All AGL gene mutations lead to storage of ...

Acid Lipase Disease

Science.gov (United States)

... of Neurological Disorders and Stroke conducts and supports research to understand lipid storage diseases such as acid lipase deficiency and ... of Neurological Disorders and Stroke conducts and supports research to understand lipid storage diseases such as acid lipase deficiency and ...

Hemolytic Disease of the Newborn Due to Anti-c Isoimmunization: A Case Report.

Science.gov (United States)

Sheeladevi, C S; Suchitha, S; Manjunath, G V; Murthy, Srinivas

2013-09-01

The Rhesus (Rh) blood group is one of the most complex blood groups known in humans. It has remained of primary importance in obstetrics, being the main cause of hemolytic disease of the newborn (HDN). Anti-D causes the most severe form of HDN. Other Rh allo antibodies that are capable of causing severe HDN include anti-c, which clinically is the most important Rh antigen after the D antigen. We report a case of hemolytic disease of the newborn due to Rh anti-c in an infant of an Rh positive mother.

Gaucher's disease diagnosed by splenectomy.

Science.gov (United States)

Adas, Mine; Adas, Gokhan; Karatepe, Oguzhan; Altiok, Merih; Ozcan, Deniz

2009-08-01

Splenectomy continues to find common therapeutic indications for hematologic disorders. In addition, recently it is also performed in surgical clinics to assist diagnose of some illnesses. Gaucher's disease, especially Type I, is the most frequently encountered lysosomal storage disorder in man. Manifestations of it are highly variable. The most frequently found symptoms include splenomegaly with anaemia and thrombocytopenia, mostly due to hypersplenism, hepatomegaly and bone disease. Four patients were reported in the present study. Three of them were easily diagnosed with Gaucher's disease via bone marrow cytology, and one with Gaucher's disease was detected by pathological examination following the splenectomy. For the pouse of diagnosis of the Gaucher's disease, performing surgery is generally not necessary. However, for the cases of difficult to diagnose by classical methods, the corect diagnosis of Gaucher's disease can only be made by a special operation.

Type I Glycogen Storage Disease

Science.gov (United States)

... Liver Function Tests Clinical Trials Liver Transplant FAQs Medical Terminology Diseases of the Liver Alagille Syndrome Alcohol-Related ... the Liver The Progression of Liver Disease FAQs Medical Terminology HOW YOU CAN HELP Sponsorship Ways to Give ...

[Celiac crisis with quadriplegia due to potassium depletion as presenting feature of celiac disease].

Science.gov (United States)

Atikou, A; Rabhi, M; Hidani, H; El Alaoui Faris, M; Toloune, F

2009-06-01

Adult coeliac disease revealed by coeliac crisis and quadriplegia due to potassium depletion is an extremely rare situation. A 26-year-old woman presented with a suddenly developed weakness of all four limbs and a severe diarrhea. Authors emphasize coeliac crisis, which is a presenting feature of coeliac disease, characterized by acute diarrhea with life-threatening acid base and electrolyte abnormalities. The patient improved with correction of hypokalemia and gluten-free diet. A severe acute diarrhea with metabolic and systemic complications, the so-called coeliac crisis, is a possible presenting clinical feature of a previously undiagnosed adult celiac disease.

Interstitial Lung Disease due to Siderosis in a Lathe Machine Worker.

Science.gov (United States)

Gothi, D; Satija, B; Kumar, S; Kaur, Omkar

2015-01-01

Since its first description in 1936, siderosis of lung has been considered a benign pneumoconiosis due to absence of significant clinical symptoms or respiratory impairment. Subsequently, authors have questioned the non-fibrogenic property of iron. However, siderosis causing interstitial lung disease with usual interstitial pneumonia (UIP) pattern has not been described in the past. We report a case of UIP on high resolution computed tomography, proven to be siderosis on transbronchial lung biopsy in a lathe machine worker.

Efficiency of Compressed Air Energy Storage

DEFF Research Database (Denmark)

Elmegaard, Brian; Brix, Wiebke

2011-01-01

The simplest type of a Compressed Air Energy Storage (CAES) facility would be an adiabatic process consisting only of a compressor, a storage and a turbine, compressing air into a container when storing and expanding when producing. This type of CAES would be adiabatic and would if the machines...... were reversible have a storage efficiency of 100%. However, due to the specific capacity of the storage and the construction materials the air is cooled during and after compression in practice, making the CAES process diabatic. The cooling involves exergy losses and thus lowers the efficiency...... of the storage significantly. The efficiency of CAES as an electricity storage may be defined in several ways, we discuss these and find that the exergetic efficiency of compression, storage and production together determine the efficiency of CAES. In the paper we find that the efficiency of the practical CAES...

Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement.

Science.gov (United States)

Missaglia, Sara; Maggi, Lorenzo; Mora, Marina; Gibertini, Sara; Blasevich, Flavia; Agostoni, Piergiuseppe; Moro, Laura; Cassandrini, Denise; Santorelli, Filippo Maria; Gerevini, Simonetta; Tavian, Daniela

2017-05-01

Neutral lipid storage disease with myopathy (NLSDM) presents with skeletal muscle myopathy and severe dilated cardiomyopathy in nearly 40% of cases. NLSDM is caused by mutations in the PNPLA2 gene, which encodes the adipose triglyceride lipase (ATGL). Here we report clinical and genetic findings of a patient carrying two novel PNPLA2 mutations (c.696+4A>G and c.553_565delGTCCCCCTTCTCG). She presented at age 39 with right upper limb abduction weakness slowly progressing over the years with asymmetric involvement of proximal upper and lower limb muscles. Cardiological evaluation through ECG and heart echo scan was normal until the age 53, when mild left ventricular diastolic dysfunction was detected. Molecular analysis revealed that only one type of PNPLA2 transcript, with exon 5 skipping, was expressed in patient cells. Such aberrant mRNA causes the production of a shorter ATGL protein, lacking part of the catalytic domain. This is an intriguing case, displaying severe PNPLA2 mutations with clinical presentation characterized by slight cardiac impairment and full expression of severe asymmetric myopathy. Copyright © 2017 The Authors. Published by Elsevier B.V. All rights reserved.

[Massive increase of foetal abdominal circumference due to hereditary polycystic kidney disease].

Science.gov (United States)

Dukic, L; Schaffelder, R; Schaible, T; Sütterlin, M; Siemer, J

2010-06-01

Autosomal recessive polycystic kidney disease (ARPKD) is a rare condition with a poor prognosis. We report on a 30-year-old primagravid woman in the 34th) week of gestation who was admitted to our hospital. ARPKD of the foetus had been sonographically suspected since the 26th week of gestation. Ultrasound examination showed big polycystic kidneys on both sides. The non-consanguineous parents wanted a maximum therapy for the infant. Foetal digitalisation because of heart insufficiency and prophylactic lung maturation was started. In the further course, Doppler sonographic values worsened and a Caesarean section was performed in the 34th week of gestation at the demand of the parents and due to the expected problems in case of a vaginal delivery. The weight of the newborn was 3,780 g and the abdominal circumference was 50 cm. The newborn was intubated immediately after birth and artificial ventilation was performed. Extracorporeal membrane oxygenation was not possible due to the bad cardial condition. The boy died 16 h after delivery. The parents refused genetic examination and autopsy of the newborn. ARPKD is a severe disease that may have obstetric relevance, due to the massively increased abdominal circumference. Therefore, termination of pregnancy or preterm induction of labor should be considered in order to avoid Caesarean section. Additionally, early prenatal diagnosis with genetic analysis of PRKD1 in cases of suspected ARPKD can be helpful. Georg Thieme Verlag KG Stuttgart, New York.

Changes in Isotopic Composition of Bottled Natural Waters Due to Different Storage Conditions

Energy Technology Data Exchange (ETDEWEB)

Ferjan, T. [Geological Survey of Slovenia, Department of Hydrogeology, Ljubljana (Slovenia); Brencic, M. [Faculty of Natural Sciences and Engineering, Department of Geology, and Geological Survey of Slovenia, Department of Hydrogeology, Ljubljana (Slovenia); Vreca, P. [Jozef Stefan Institute, Department of Environmental Sciences, Ljubljana (Slovenia)

2013-07-15

To establish the influence of environmental conditions on processes affecting the stable isotopic composition of bottled water during storage, various brands of bottled water were exposed for 2 years in different conditions. Selected low mineralized natural mineral water of one particular brand stored in polyethylene terephthalate (PET) bottles was placed at three different locations with different physical conditions (temperature, relative humidity, air pressure, exposure to sunlight). For comparison, bottles of three other low mineralized natural mineral water brands, each from a different aquifer source, were placed in parallel at one of the locations. Each location was characterized by temperature, relative humidity and air pressure measurements. pH, conductivity and stable isotopic composition of oxygen, hydrogen and carbon in dissolved inorganic carbon ({delta}{sup 18}O, {delta}{sup 2}H, {delta}{sup 13}C{sub DIC}) were measured in regular intervals for nearly two years. Preliminary results from each location show noticeable changes in isotopic composition as well as the physical parameters of water with time of storage.

Addison's disease due to bilateral post-traumatic adrenal haemorrhage: CT and MR findings

International Nuclear Information System (INIS)

Wilms, G.; Tits, J.; Vanstraelen, D.; Marchal, G.; Rigauts, H.; Baert, A.L.

1991-01-01

In a patient with Addison's disease, who gave a history of a severe car accident, CT showed bilateral enlargement of the adrenal glands. MRI, by demonstrating paramagnetic T1 shortening due to methaemoglobin and haemosiderin on T2-weighted images, confirmed the haemorrhagic nature of the lesions. (orig.)

Prevalence of temporary social security benefits due to respiratory disease in Brazil.

Science.gov (United States)

Ildefonso, Simone de Andrade Goulart; Barbosa-Branco, Anadergh; Albuquerque-Oliveira, Paulo Rogério

2009-01-01

To determine the prevalence of temporary social security benefits due to respiratory disease granted to employees, as well as the number of lost workdays and costs resulting from those in Brazil between 2003 and 2004. Cross-sectional study using data obtained from the Unified System of Benefits of the Brazilian Institute of Social Security (INSS, Instituto Nacional de Seguro Social) and the Brazilian Social Registry Database. Data regarding gender, age, diagnosis and type of economic activity, as well as type, duration and cost of benefits, were compiled. Respiratory diseases accounted for 1.3% of the total number of temporary social security benefits granted by INSS, with a prevalence rate of 9.92 (per 10,000 employment contracts). Females and individuals older than 50 years of age were the most affected. Non-work-related benefits were more common than were work-related benefits. The most prevalent diseases were pneumonia, asthma and COPD, followed by laryngeal and vocal cord diseases. The most prevalent types of economic activity were auxiliary transportation equipment manufacturing, tobacco product manufacturing and computer-related activities. The mean duration of benefits was 209.68 days, with a mean cost of R$ 4,495.30 per occurrence. Respiratory diseases caused by exogenous agents demanded longer sick leave (mean, 296.72 days) and greater cost (mean, R$ 7,105.74). The most prevalent diseases were airway diseases and pneumonia. Workers from auxiliary transportation equipment manufacturing, tobacco product manufacturing and computer-related activities were the most affected. Diseases caused by exogenous agents demanded longer sick leaves and resulted in greater costs.

Developing semi-analytical solution for multiple-zone transient storage model with spatially non-uniform storage

Science.gov (United States)

Deng, Baoqing; Si, Yinbing; Wang, Jia

2017-12-01

Transient storages may vary along the stream due to stream hydraulic conditions and the characteristics of storage. Analytical solutions of transient storage models in literature didn't cover the spatially non-uniform storage. A novel integral transform strategy is presented that simultaneously performs integral transforms to the concentrations in the stream and in storage zones by using the single set of eigenfunctions derived from the advection-diffusion equation of the stream. The semi-analytical solution of the multiple-zone transient storage model with the spatially non-uniform storage is obtained by applying the generalized integral transform technique to all partial differential equations in the multiple-zone transient storage model. The derived semi-analytical solution is validated against the field data in literature. Good agreement between the computed data and the field data is obtained. Some illustrative examples are formulated to demonstrate the applications of the present solution. It is shown that solute transport can be greatly affected by the variation of mass exchange coefficient and the ratio of cross-sectional areas. When the ratio of cross-sectional areas is big or the mass exchange coefficient is small, more reaches are recommended to calibrate the parameter.

Temperature-dependent regulation of sugar metabolism in wild-type and low-invertase transgenic chipping potatoes during and after cooling for low-temperature storage

Science.gov (United States)

Regulation of sugar metabolism in cold-stored potato tubers has significant ramifications for potato chip and French fry producers and consumers. Though low-temperature storage reduces losses due to sprouting and disease, it induces accumulation of the reducing sugars glucose and fructose. These rea...

Air pollutants and hospital admissions due to cardiovascular diseases in São José do Rio Preto, Brazil.

Science.gov (United States)

Mantovani, Kátia Cristina Cota; Nascimento, Luiz Fernando Costa; Moreira, Demerval Soares; Vieira, Luciana Cristina Pompeo Ferreira da Silva; Vargas, Nicole Patto

2016-02-01

This study aimed to estimate the effects of environmental pollutants on the increase of hospitalizations due to cardiovascular diseases. This was an ecological study conducted in the city of São José do Rio Preto, São Paulo, Brazil, with data from hospital admissions with diagnoses in the categories of I-00 to I-99, from October, 1, 2011, to September 30, 2012. Fineparticulate matter (PM2,5), ozone, carbon monoxide, nitrogen oxide and nitrogen dioxide were the pollutants studied; they were estimated by CATT-BRAMs model. The use of an additive Poisson regression model showed association between exposure to PM2,5 and hospital admission due to cardiovascular diseases. In the fifth day after exposure to this pollutant (lag 5), the relative risk for hospitalization due to cardiovascular diseases increased 15 percent in according to 10 µg/m3 increase on PM2,5 concentrations. There were 650 avoidable hospital admissions and an excess of R$ 1.9 million in hospital expenses. Thus, it was possible to identify the association between exposure to PM2,5 and hospital admission due cardiovascular diseases in medium-sized cities, like São José do Rio Preto.

Group 3 medulloblastoma in a patient with a GYS2 germline mutation and glycogen storage disease 0a.

Science.gov (United States)

Holsten, Till; Tsiakas, Konstantinos; Kordes, Uwe; Bison, Brigitte; Pietsch, Torsten; Rutkowski, Stefan; Santer, René; Schüller, Ulrich

2018-03-01

Glycogen storage disease (GSD) 0a is a rare congenital metabolic disease with symptoms in infancy and childhood caused by biallelic GYS2 germline variants. A predisposition to cancer has not been described yet. We report here a boy with GSD 0a, who developed a malignant brain tumor at the age of 4.5 years. The tumor was classified as a group 3 medulloblastoma, and the patient died from cancer 27 months after initial tumor diagnosis. This case appears interesting as group 3 medulloblastoma is so far not known to arise in hereditary syndromes and the biology of sporadic group 3 medulloblastoma is largely unknown.

MORBIDITY AND MORTALITY DUE TO AIDS: A STUDY OF BURDEN OF DISEASE AT A MUNICIPAL LEVEL

Directory of Open Access Journals (Sweden)

Jane DA SILVA

2015-10-01

Full Text Available Introduction: The purpose of measuring the burden of disease involves aggregating morbidity and mortality components into a single indicator, the disability-adjusted life year (DALY, to measure how much and how people live and suffer the impact of a disease. Objective: To estimate the global burden of disease due to AIDS in a municipality of southern Brazil. Methods: An ecological study was conducted in 2009 to examine the incidence and AIDS-related deaths among the population residing in the city of Tubarao, Santa Catarina State, Brazil. Data from the Mortality Information System in the National Health System was used to calculate the years of life lost (YLL due to premature mortality. The calculation was based on the difference between a standardized life expectancy and age at death, with a discount rate of 3% per year. Data from the Information System for Notifiable Diseases were used to calculate the years lived with disability (YLD. The DALY was estimated by the sum of YLL and YLD. Indicator rates were estimated per 100,000 inhabitants, distributed by age and gender. Results: A total of 131 records were examined, and a 572.5 DALYs were estimated, which generated a rate of 593.1 DALYs/100,000 inhabitants. The rate among men amounted to 780.7 DALYs/100,000, whereas among women the rate was 417.1 DALYs/100,000. The most affected age groups were 30-44 years for men and 60-69 years for women. Conclusion: The burden of disease due to AIDS in the city of Tubarao was relatively high when considering the global trend. The mortality component accounted for more than 90% of the burden of disease.

Relative frequency and estimated minimal frequency of Lysosomal Storage Diseases in Brazil: Report from a Reference Laboratory

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Roberto Giugliani

2017-03-01

Full Text Available Abstract Lysosomal storage diseases (LSDs comprise a heterogeneous group of more than 50 genetic conditions of inborn errors of metabolism (IEM caused by a defect in lysosomal function. Although there are screening tests for some of these conditions, diagnosis usually depends on specific enzyme assays, which are only available in a few laboratories around the world. A pioneer facility for the diagnosis of IEM and LSDs was established in the South of Brazil in 1982 and has served as a reference service since then. Over the past 34 years, samples from 72,797 patients were referred for investigation of IEM, and 3,211 were confirmed as having an LSD (4.41%, or 1 in 22, with 3,099 of these patients originating from Brazil. The rate of diagnosis has increased over time, in part due to the creation of diagnostic networks involving a large number of Brazilian services. These cases, referred from Brazilian regions, provide insight about the relative frequency of LSDs in the country. The large amount of data available allows for the estimation of the minimal frequency of specific LSDs in Brazil. The reported data could help to plan health care policies, as there are specific therapies available for most of the cases diagnosed.

Homozygosity and risk of childhood death due to invasive bacterial disease

Directory of Open Access Journals (Sweden)

Williams Thomas N

2009-06-01

Full Text Available Abstract Background Genetic heterozygosity is increasingly being shown to be a key predictor of fitness in natural populations, both through inbreeding depression, inbred individuals having low heterozygosity, and also through chance linkage between a marker and a gene under balancing selection. One important component of fitness that is often highlighted is resistance to parasites and other pathogens. However, the significance of equivalent loci in human populations remains unclear. Consequently, we performed a case-control study of fatal invasive bacterial disease in Kenyan children using a genome-wide screen with microsatellite markers. Methods 148 cases, comprising children aged Results At five markers homozygosity was strongly associated with mortality (odds ratio range 4.7 – 12.2 with evidence of interactions between some markers. Mortality was associated with different non-overlapping marker groups in Gram positive and Gram negative bacterial disease. Homozygosity at susceptibility markers was common (prevalence 19–49% and, with the large effect sizes, this suggests that bacterial disease mortality may be strongly genetically determined. Conclusion Balanced polymorphisms appear to be more widespread in humans than previously appreciated and play a critical role in modulating susceptibility to infectious disease. The effect sizes we report, coupled with the stochasticity of exposure to pathogens suggests that infection and mortality are far from random due to a strong genetic basis.

A rare case of massive hepatosplenomegaly due to acute ...

African Journals Online (AJOL)

massive hepatosplenomegaly include chronic lymphoproliferative malignancies, infections (malaria, leishmaniasis) and glycogen storage diseases (Gaucher's disease).[4] In our case the probable causes of the massive hepatosplenomegaly were a combination of late presentation after symptom onset, leukaemic infiltration.

Simulation of Mechanical Processes in Gas Storage Caverns for Short-Term Energy Storage

Science.gov (United States)

Böttcher, Norbert; Nagel, Thomas; Kolditz, Olaf

2015-04-01

In recent years, Germany's energy management has started to be transferred from fossil fuels to renewable and sustainable energy carriers. Renewable energy sources such as solar and wind power are subjected by fluctuations, thus the development and extension of energy storage capacities is a priority in German R&D programs. This work is a part of the ANGUS+ Project, funded by the federal ministry of education and research, which investigates the influence of subsurface energy storage on the underground. The utilization of subsurface salt caverns as a long-term storage reservoir for fossil fuels is a common method, since the construction of caverns in salt rock is inexpensive in comparison to solid rock formations due to solution mining. Another advantage of evaporate as host material is the self-healing behaviour of salt rock, thus the cavity can be assumed to be impermeable. In the framework of short-term energy storage (hours to days), caverns can be used as gas storage reservoirs for natural or artificial fuel gases, such as hydrogen, methane, or compressed air, where the operation pressures inside the caverns will fluctuate more frequently. This work investigates the influence of changing operation pressures at high frequencies on the stability of the host rock of gas storage caverns utilizing numerical models. Therefore, we developed a coupled Thermo-Hydro-Mechanical (THM) model based on the finite element method utilizing the open-source software platform OpenGeoSys. The salt behaviour is described by well-known constitutive material models which are capable of predicting creep, self-healing, and dilatancy processes. Our simulations include the thermodynamic behaviour of gas storage process, temperature development and distribution on the cavern boundary, the deformation of the cavern geometry, and the prediction of the dilatancy zone. Based on the numerical results, optimal operation modes can be found for individual caverns, so the risk of host rock damage

Mortality in pulmonary arterial hypertension due to congenital heart disease: Serial changes improve prognostication

NARCIS (Netherlands)

Schuijt, M.T.U.; Blok, I.M.; Zwinderman, A.H.; Riel, A. van; Schuuring, M.J.; Winter, R.J. de; Duijnhouwer, A.L.; Dijk, A.P.J. van; Mulder, B.J.; Bouma, B.J.

2017-01-01

BACKGROUND: Adult patients with pulmonary arterial hypertension due to congenital heart disease (PAH-CHD) suffer from high mortality. This underlines the importance of adequate risk stratification to guide treatment decisions. Several baseline parameters are associated with mortality, however, their

Mortality in pulmonary arterial hypertension due to congenital heart disease: Serial changes improve prognostication

NARCIS (Netherlands)

Schuijt, M. T. U.; Blok, I. M.; Zwinderman, A. H.; van Riel, A. C. M. J.; Schuuring, M. J.; de Winter, R. J.; Duijnhouwer, A. L.; van Dijk, A. P. J.; Mulder, B. J. M.; Bouma, B. J.

2017-01-01

Background: Adult patients with pulmonary arterial hypertension due to congenital heart disease (PAH-CHD) suffer from high mortality. This underlines the importance of adequate risk stratification to guide treatment decisions. Several baseline parameters are associated with mortality, however, their

A Comparative Study on the Alterations of Endocytic Pathways in Multiple Lysosomal Storage Disorders.

Science.gov (United States)

Rappaport, Jeff; Manthe, Rachel L; Solomon, Melani; Garnacho, Carmen; Muro, Silvia

2016-02-01

Many cellular activities and pharmaceutical interventions involve endocytosis and delivery to lysosomes for processing. Hence, lysosomal processing defects can cause cell and tissue damage, as in lysosomal storage diseases (LSDs) characterized by lysosomal accumulation of undegraded materials. This storage causes endocytic and trafficking alterations, which exacerbate disease and hinder treatment. However, there have been no systematic studies comparing different endocytic routes in LSDs. Here, we used genetic and pharmacological models of four LSDs (type A Niemann-Pick, type C Niemann-Pick, Fabry, and Gaucher diseases) and evaluated the pinocytic and receptor-mediated activity of the clathrin-, caveolae-, and macropinocytic routes. Bulk pinocytosis was diminished in all diseases, suggesting a generic endocytic alteration linked to lysosomal storage. Fluid-phase (dextran) and ligand (transferrin) uptake via the clathrin route were lower for all LSDs. Fluid-phase and ligand (cholera toxin B) uptake via the caveolar route were both affected but less acutely in Fabry or Gaucher diseases. Epidermal growth factor-induced macropinocytosis was altered in Niemann-Pick cells but not other LSDs. Intracellular trafficking of ligands was also distorted in LSD versus wild-type cells. The extent of these endocytic alterations paralleled the level of cholesterol storage in disease cell lines. Confirming this, pharmacological induction of cholesterol storage in wild-type cells disrupted endocytosis, and model therapeutics restored uptake in proportion to their efficacy in attenuating storage. This suggests a proportional and reversible relationship between endocytosis and lipid (cholesterol) storage. By analogy, the accumulation of biological material in other diseases, or foreign material from drugs or their carriers, may cause similar deficits, warranting further investigation.

Yield, utilization, storage and ultimate storage of depleted uranium

International Nuclear Information System (INIS)

Aumueller, L.; Hermann, J.

1977-11-01

More than 80% of the uranium leaving uranium enrichment plants is depleted to a residual content of about 0,25% U 235. Due to the present ineconomical further depletion to the technically possible residual content of 0,1% U 235, the so-called 'tails' are first of all stored. The quantity of stored depleted uranium in the FRG should be about 100.000 t by the year 2000. It represents a strategic reserve for future energy supply regardless of profitableness. The study analysis the conceivable possible uses for the tails quantity considered. These are, besides further depletion whose profitableness is considered, also the use as breeder material in breeder reactors and the use in the non-nuclear field. The main part of the study deals with the various storage possibilities of the depleted uranium in oxidic or fluoride form. A comparison of costs of alternative storage concepts showed a clear advantage for the storage of UF 6 in 48 inch containers already in use. The conceivable accidents in storing are analyzed and measures to reduce the consequences are discussed. Finally, the problems of ultimate storage for the remaining waste after further depletion or use are investigated and the costs arising here are also estimated. (RB) [de

Study of Aquifer Thermal Energy Storage

Science.gov (United States)

Okuyama, Masaaki; Umemiya, Hiromichi; Shibuya, Ikuko; Haga, Eiji

Yamagata University 'Aquifer Thermal Energy Storage (ATES)' is the experimental system which has been running since 1982. From the results for along terms of experiments, we obtain many important knowledge. This paper presents the accomplishments for 16 years and the characteristics of thermal energy storage in thermal energy storage well. The conclusions show as follows. 1)In recent years, the thermal recovery factor of warm energy storage well becomes almost constant at about 60%. 2) The thermal recovery factor of cool energy storage well increases gradually and becomes at about 15%. 3) Since the ferric colloidal dam is formed in aquifer, thermal recovery factor increase year after year. 4) Back wash can remove clogging for ferric colloidal dam. 5) The apparent thermal diffusivity decrease gradually due to ferric colloidal dam.

What's Up with the Storage Hierarchy?

DEFF Research Database (Denmark)

Bonnet, Philippe

2017-01-01

Ten years ago, Jim Gray observed that flash was about to replace magnetic disks. He also predicted that the need for low latency would make main memory databases commonplace. Most of his predictions have proven accurate. Today, who can make predictions about the future of the storage hierarchy......? Both main memory and storage systems are undergoing profound transformations. First, their design goals are increasingly complex (reconfigurable infrastructure at low latency, high resource utilization and stable energy footprint). Second, the status quo is not an option due to the shortcomings...... of existing solutions (memory bandwidth gap, inefficiency of generic memory/storage controllers). Third, new technologies are emerging (hybrid memories, non-volatile memories still under non-disclosure agreements, near-data processing in memory and storage). The impact of these transformations on the storage...

Disease burden due to biomass cooking-fuel-related household air pollution among women in India.

Science.gov (United States)

Sehgal, Meena; Rizwan, Suliankatchi Abdulkader; Krishnan, Anand

2014-01-01

Household air pollution (HAP) due to biomass cooking fuel use is an important risk factor for a range of diseases, especially among adult women who are primary cooks, in India. About 80% of rural households in India use biomass fuel for cooking. The aim of this study is to estimate the attributable cases (AC) for four major diseases/conditions associated with biomass cooking fuel use among adult Indian women. We used the population attributable fraction (PAF) method to calculate the AC of chronic bronchitis, tuberculosis (TB), cataract, and stillbirths due to exposure to biomass cooking fuel. A number of data sources were accessed to obtain population totals and disease prevalence rates. A meta-analysis was conducted to obtain adjusted pooled odds ratios (ORs) for strength of association. Using this, PAF and AC were calculated using a standard formula. Results were presented as number of AC and 95% confidence intervals (CI). The fixed effects pooled OR obtained from the meta-analysis were 2.37 (95% CI: 1.59, 3.54) for chronic bronchitis, 2.33 (1.65, 3.28) for TB, 2.16 (1.42, 3.26) for cataract, and 1.26 (1.12, 1.43) for stillbirths. PAF varied across conditions being maximum (53%) for chronic bronchitis in rural areas and least (1%) for cataract in older age and urban areas. About 2.4 (95% CI: 1.4, 3.1) of 5.6 m cases of chronic bronchitis, 0.3 (0.2, 0.4) of 0.76 m cases of TB, 5.0 (2.8, 6.7) of 51.4 m cases of cataract among adult Indian women and 0.02 (0.01, 0.03) of 0.15 m stillbirths across India are attributable to HAP due to biomass cooking fuel. These estimates should be cautiously interpreted in the light of limitations discussed which relate to exposure assessment, exposure characterization, and age-specific prevalence of disease. HAP due to biomass fuel has diverse and major impacts on women's health in India. Although challenging, incorporating the agenda of universal clean fuel access or cleaner technology within the broader framework of rural

Changes in quality of apple (Malus domestica) cultivars due to γ-irradiation and storage conditions

International Nuclear Information System (INIS)

Hussain, P.R.; Dar, M.A.; Meena, R.S.; Wani, A.M.; Mir, M.A.; Shafi, F.

2008-01-01

Ambri, Golden Delicious and Royal Delicious apple varieties were γ-irradiated (0.1-0.5 kGy) and stored under ambient (15 ±2 degC, 80%RH) and refrigerated (3±1 degC, 90%RH) conditions. They were evaluated periodically for firmness, total soluble solids, acidity, juice yield, physiological loss in weight, overall acceptability and yeast and mold counts. The γ-irradiation doses of 0.2, 0.3 and 0.5 kGy proved beneficial in maintaining the overall quality of all the 3 varieties of apple under both the storage conditions. γ-irradiation significantly reduced the yeast and mold counts of apples under storage. (author)

Alzheimer's disease due to loss of function

DEFF Research Database (Denmark)

Kepp, Kasper Planeta

2016-01-01

Alzheimer's Disease (AD) is a highly complex disease involving a broad range of clinical, cellular, and biochemical manifestations that are currently not understood in combination. This has led to many views of AD, e.g. the amyloid, tau, presenilin, oxidative stress, and metal hypotheses....... The amyloid hypothesis has dominated the field with its assumption that buildup of pathogenic β-amyloid (Aβ) peptide causes disease. This paradigm has been criticized, yet most data suggest that Aβ plays a key role in the disease. Here, a new loss-of-function hypothesis is synthesized that accounts...

Addison's disease due to Histoplasma duboisii infection of the adrenal glands

International Nuclear Information System (INIS)

Mudawi, Hatim M.; Baraka, Omer Z.; El-Hassan, Ahmed M.; El-Amin, Elwaleed M.

2008-01-01

Histoplasmosis is a fungal infection caused by Histoplasma capsulatum. In the normal individual, both disseminated histoplasmosis and symptomatic adrenal histoplasmosis are rare. Herein, we describe the case of a 50-year-old gentleman residing in western Sudan who presented with 7-month history of generalized body weakness, easy fatigue and frequent attacks of vomiting and diarrhea. Physical examination and laboratory investigations confirmed the diagnosis of Addison's disease due to histoplasma capsulatum var duboisii infection of the adrenal glands. He was treated with intravenous hydrocortisone, followed by oral prednisolone and itraconazole. (author)

Global health impacts due to infectious diseases and climate change: A narrative review

Directory of Open Access Journals (Sweden)

Sameera Karnik

2013-01-01

Full Text Available According to the World Health Organization (WHO, environment is explained in terms of human health, such as physical, chemical and biological factors that are external to a person and all the related behavioral changes that affect population health. Quality of life and health is generally affected by people’s interaction with the environment.The purpose of this narrative review was to address various global health impacts such as heat wave impact, impact of floods and droughts, impact of allergens and impact of air pollution. A major emphasis of this review was on climatic impact on a variety of infectious diseases, particularly the interplay between ‘global warming’ and its effects on transmission of infectious diseases across the world. An analysis of vector borne disease transmission, infectious disease transmission modeling, in the backdrop of global warming, the concept of ‘one health’ and the effects of rising sea levels, which are purported to be due to global warming, were some of the highlighted issues addressed in this review. Towards the end, attention was drawn towards the limitations of addressing vector disease transmission related insufficient studies particularly studies which conduct predictive modeling of infectious disease transmission, which were marred by lack of innovation.

Global health impacts due to infectious diseases and climate change: A narrative review

Directory of Open Access Journals (Sweden)

Sameera Karnik

2013-05-01

Full Text Available According to the World Health Organization (WHO, environment is explained in terms of human health, such as physical, chemical and biological factors that are external to a person and all the related behavioral changes that affect population health. Quality of life and health is generally affected by people’s interaction with the environment.The purpose of this narrative review was to address various global health impacts such as heat wave impact, impact of floods and droughts, impact of allergens and impact of air pollution. A major emphasis of this review was on climatic impact on a variety of infectious diseases, particularly the interplay between ‘global warming’ and its effects on transmission of infectious diseases across the world. An analysis of vector borne disease transmission, infectious disease transmission modeling, in the backdrop of global warming, the concept of ‘one health’ and the effects of rising sea levels, which are purported to be due to global warming, were some of the highlighted issues addressed in this review. Towards the end, attention was drawn towards the limitations of addressing vector disease transmission related insufficient studies particularly studies which conduct predictive modeling of infectious disease transmission, which were marred by lack of innovation.

Prenatal-Onset Niemann–Pick Type C Disease with Nonimmune Hydrops Fetalis

Directory of Open Access Journals (Sweden)

Ozge Surmeli-Onay

2013-10-01

Full Text Available Niemann–Pick type C (NPC; OMIM 257219 disease is a neurodegenerative lysosomal storage disorder characterized by accumulation of unesterified cholesterol in the lysosomal/late endosomal system. This autosomal recessive disorder occurs in approximately 1/150,000 births. The broad clinical spectrum ranges from a prenatal severe presentation to an adult-onset chronic neurodegenerative disease. Data about prenatal presentation of NPC are limited. A female newborn was born at 342 weeks' gestation with a birth weight of 3070 g, and transferred to the Neonatal Intensive Care Unit because of nonimmune hydrops fetalis (NIHF and respiratory distress. On admission, a physical examination revealed skin edema, mild respiratory distress, and abdominal distention due to massive ascites. Hepatosplenomegaly and cholestasis increased progressively and bleeding diathesis occurred. Results of an abdominal ultrasonography showed hepatosplenomegaly and segmental multicystic dysplastic left kidney. Foamy cells with a lysosomal phospholipid storage pattern compatible with NPC were found in the bone marrow smear. Cultured fibroblasts showed a strongly elevated filipin staining (classical NPC cellular phenotype, establishing the diagnosis of NPC. The infant died on the 52nd day of life because of respiratory distress due to lung involvement of NPC, massive ascites, and progressive liver failure. Results of an autopsy showed multiorgan storage disease involving the liver, spleen, lymph nodes, thymus, lungs, and brain. Here, we present a preterm infant with NIHF as a sign of severe prenatal-onset NPC and review the literature.

Annual disease burden due to human papillomavirus 16 and 18 infections in Finland.

Science.gov (United States)

Syrjänen, Kari J

2009-01-01

Apart from cancers of the lower female genital tract, human papillomaviruses (HPV) are associated with a large number of benign, premalignant and malignant lesions at different anatomic sites in both genders. Malignant tumours and their precursors are usually attributed to the oncogenic (high-risk, HR) HPV types, whereas benign lesions (mostly papillomas) are ascribed to the low-risk (LR) HPV types, most notably HPV6 and HPV11. To date, the main interest has been focused on HR-HPV types and their associated pathology, and much less attention has been paid to the lesions caused by the LR-HPV types. The recent licensing of an effective prophylactic vaccine against the 2 most important LR-HPV types (HPV6 and HPV11) has resulted in considerably increased interest in these LR-HPV types as well. This author recently conducted a systematic survey of the annual disease burden due to HPV6/11 infections in Finland. As a rational continuation, the present survey was conducted to estimate the annual disease burden due to HPV16 and HPV18 infections in our country. Together, these 2 documents form the foundation for calculations of the annual costs needed to treat the diseases caused by these 2 most common LR and HR HPV types. Similar to HPV6/11, accurate estimates of disease burden are also mandatory for all modelling of the cost-effectiveness of prophylactic HPV16/18 vaccines. In the first step, the published HPV literature was used to create a list of benign, premalignant and malignant lesions associated with this virus at different anatomic sites. The GLOBOCAN 2004 (IARC; International Agency for Research on Cancer) database was used to derive the global numbers of incident cases for each of these malignancies in 2002, and the Finnish Cancer Registry (FCR) website was used to obtain these numbers for Finland (y 2005). The evidence linking HPV to each individual tumour category was classified as: (1) established, (2) emerging, and (3) controversial. All published evidence was

Pulmonary hypertension due to unclassified interstitial lung disease in a Pembroke Welsh corgi.

Science.gov (United States)

Morita, Tomoya; Nakamura, Kensuke; Tatsuyuki, Osuga; Kobayashi, Atsushi; Ichii, Osamu; Yabuki, Akira; Takiguchi, Mitsuyoshi

2018-04-23

A 12 year-old intact male Pembroke Welsh corgi weighing 10.8 kg was presented for evaluation of a 3-month history of dyspnea, and a 1-week history of exercise intolerance and anorexia. Severe hypoxemia (PaO 2 56 mmHg), diffuse lung alveolar infiltration, and severe pulmonary hypertension (tricuspid regurgitation pressure gradient was 81 mmHg) were identified. A tentative diagnosis of severe PH due to lung disease or pulmonary thromboembolism was made and treated intensively. After 5 days of hospitalization, the dog died despite oxygen supplementation and anticoagulant therapy. This dog was diagnosed as unclassified interstitial lung disease based on histopathological findings.

The second report of a new hypomyelinating disease due to a defect in the VPS11 gene discloses a massive lysosomal involvement.

Science.gov (United States)

Hörtnagel, Konstanze; Krägeloh-Mann, Inge; Bornemann, Antje; Döcker, Miriam; Biskup, Saskia; Mayrhofer, Heidi; Battke, Florian; du Bois, Gabriele; Harzer, Klaus

2016-11-01

Vesicular protein sorting-associated proteins (VPS, including VPS11) are indispensable in the endocytic network, in particular the endosome-lysosome biogenesis. Exome sequencing revealed the homozygous variant p.Leu387_ Gly395del in the VPS11 gene in two siblings. On immunoblotting, the mutant VPS11 protein showed a distinctly reduced immunostaining intensity. The children presented with primary and severe developmental delay associated with myoclonic seizures, spastic tetraplegia, trunk and neck hypotonia, blindness, hearing loss, and microcephaly. Neuro-imaging showed severe hypomyelination affecting cerebral and cerebellar white matter and corpus callosum, in the absence of a peripheral neuropathy. Electron microscopy of a skin biopsy revealed clusters of membranous cytoplasmic bodies in dermal unmyelinated nerve axons, and numbers of vacuoles in eccrine sweat glands, similar to what is seen in a classic lysosomal storage disease (LSD). Bone marrow cytology showed a high number of storage macrophages with a micro-vacuolated cytoplasm. Biochemically, changes in urinary glycosphingolipids were reminiscent of those in prosaposin deficiency (another LSD). The clinical and neuro-imaged features in our patients were almost identical to those in some recently reported patients with another variant in the VPS11 gene, p.Cys846Gly; underlining the presumed pathogenic potential of VPS11 defects. A new feature was the morphological evidence for lysosomal storage in VPS11 deficiency: This newly characterised disease can be viewed as belonging to the complex field of LSD.

Substrate reduction therapy of glycosphingolipid storage disorders

NARCIS (Netherlands)

Aerts, Johannes M. F. G.; Hollak, Carla E. M.; Boot, Rolf G.; Groener, Johanna E. M.; Maas, Mario

2006-01-01

In the last 15 years enormous progress has been made regarding therapy of type I Gaucher disease, a severely disabling disorder characterized by intralysosomal storage of glucosylceramide in tissue macrophages. Effective enzyme replacement therapy of type I Gaucher disease, based on chronic

Trends in the risk of mortality due to cardiovascular diseases in five Brazilian geographic regions from 1979 to 1996

Directory of Open Access Journals (Sweden)

Maria de Fátima Marinho de Souza

2001-12-01

Full Text Available OBJECTIVE - To analyze the trends in risk of death due to cardiovascular diseases in the northern, northeastern, southern, southeastern, and central western Brazilian geographic regions from 1979 to 1996. METHODS - Data on mortality due to cardiovascular, cardiac ischemic, and cerebrovascular diseases in 5 Brazilian geographic regions were obtained from the Ministry of Health. Population estimates for the time period from 1978 to 1996 in the 5 Brazilian geographic regions were calculated by interpolation with the Lagrange method, based on the census data from 1970, 1980, 1991, and the population count of 1996, for each age bracket and sex. Trends were analyzed with the multiple linear regression model. RESULTS - Cardiovascular diseases showed a declining trend in the southern, southeastern, and northern Brazilian geographic regions in all age brackets and for both sexes. In the northeastern and central western regions, an increasing trend in the risk of death due to cardiovascular diseases occurred, except for the age bracket from 30 to 39 years, which showed a slight reduction. This resulted from the trends of cardiac ischemic and cerebrovascular diseases. The analysis of the trend in the northeastern and northern regions was impaired by the great proportion of poorly defined causes of death. CONCLUSION - The risk of death due to cardiovascular, cerebrovascular, and cardiac ischemic diseases decreased in the southern and southeastern regions, which are the most developed regions in the country, and increased in the least developed regions, mainly in the central western region.

[Type 3 Gaucher disease, also an adult disease?

Science.gov (United States)

Leurs, A; Chepy, A; Detonellaere, C; Pascal, L; Gallois, P; Tran, T-A-C; Caillaud, C; Hatron, P-Y; Rose, C

2018-03-30

Gaucher disease is a genetic lysosomal storage disorder due to a glucocerebrosidase deficiency. Type 3, including neurological impairment, may have a specific phenotype in the context of the D409H mutation. We report the case of a 22-year-old woman who presented with Gaucher disease. Enzyme replacement therapy by imiglucerase was followed by rapid clinical and biological improvement. However, communication difficulties, which were initially attributed to the language barrier, revealed neurological impairment. After complementary assessment, the diagnosis of type 3 Gaucher disease was suspected. Gene analysis of the glucocerebrosidase showed a homozygous D409H mutation. This mutation results in calcified heart valves, corneal opacities, alteration of oculomotricity and hydrocephalus. The mild manifestation at onset and the late neurological involvement in the medical history make the diagnosis more difficult. This particular clinical phenotype deserves to be known in adult medicine departments. Copyright © 2018 Société Nationale Française de Médecine Interne (SNFMI). Published by Elsevier SAS. All rights reserved.

Graves' disease associated with infectious mononucleosis due to primary Epstein-Barr virus infection: report of 3 cases.

Science.gov (United States)

Akahori, Hiroshi; Takeshita, Yumie; Saito, Reina; Kaneko, Shuichi; Takamura, Toshinari

2010-01-01

Although the etiology of Graves' disease is still not clear, it is generally suggested that environmental factors such as infections contribute to the development of Graves' disease. We report here three cases of Graves' disease which presented simultaneously with infectious mononucleosis due to primary EBV infection. Acute EBV infection might play an important role in the onset of Graves' disease. These three women complained of a sore throat or neck pain, resembling subacute thyroiditis. In the case of thyrotoxicosis accompanied by sore throat or neck pain, Graves' disease must be distinguished from subacute thyroiditis.

Radioactive wastes storage and disposal. Chapter 8

International Nuclear Information System (INIS)

2002-01-01

The Chapter 8 is essentially dedicated to radioactive waste management - storage and disposal. The management safety is being provided due to packages and facilities of waste disposal and storage. It is noted that at selection of sites for waste disposal it is necessary account rock properties and ways of the wastes delivery pathways

Quantification of free sialic acid in urine by HPLC-electrospray tandem mass spectrometry: A tool for the diagnosis of sialic acid storage disease

NARCIS (Netherlands)

Valianpour, Fredoen; Abeling, Nicolaas G. G. M.; Duran, Marinus; Huijmans, Jan G. M.; Kulik, Willem

2004-01-01

Background: Sialic acid storage diseases (SSDs) are severe autosomal recessive neurodegenerative disorders caused by a transport defect across the lysosomal membrane, which leads to accumulation of sialic acid in tissues, fibroblasts, and urine. Defective free sialic acid transport can be

Magnetic resonance imaging findings of central nervous system in lysosomal storage diseases: A pictorial review.

Science.gov (United States)

Fagan, Nathan; Alexander, Allen; Irani, Neville; Saade, Charbel; Naffaa, Lena

2017-06-01

Lysosomal storage diseases (LSD) are a complex group of genetic disorders that are a result of inborn errors of metabolism. These errors result in a variety of metabolic dysfunction and build-up certain molecules within the tissues of the central nervous system (CNS). Although, they have discrete enzymatic deficiencies, symptomology and CNS imaging findings can overlap with each other, which can become challenging to radiologists. The purpose of this paper is to review the most common CNS imaging findings in LSD in order to familiarize the radiologist with their imaging findings and help narrow down the differential diagnosis. © 2016 The Royal Australian and New Zealand College of Radiologists.

Malignancies and infection due to the human immunodeficiency virus. Are these emerging diseases?

Science.gov (United States)

Valencia Ortega, M E

2018-04-01

Since the start of the human immunodeficiency virus (HIV) epidemic, tumour disease among patients has been significant. The collection of malignancies can be divided primarily into 2 groups: those associated with HIV (all of which are related to viral diseases) and those not associated with HIV (only some of which are associated with viral diseases). The origin of these malignancies is multifactorial, and the main causes that have led to an increase in tumour disease are immunosuppression, coinfection with oncogenic viruses and life prolongation secondary to the use of antiretroviral therapy. Establishing the general characteristics of the undiagnosed AIDS tumours is difficult, mainly because they are a highly heterogeneous group formed by malignancies of a diverse nature. The treatments do not differ from those used in the general population, although the management can be more difficult due to the late diagnosis, drug interactions and associated comorbidities. Copyright © 2017 Elsevier España, S.L.U. and Sociedad Española de Medicina Interna (SEMI). All rights reserved.

Vitamin D3 in Pigs: Distribution, Storage and Turnover under Various Input Conditions

DEFF Research Database (Denmark)

Burild, Anders

Vitamin D3 is important for the mineralization of the skeleton to prevent the deficiency diseases rickets and osteoporosis, and to maintain a healthy skeleton throughout life. Vitamin D3 is synthesized in the skin after exposure to the sun. Due to the low angle of the sun during wintertime at high...... latitudes, no or only a negligible amount of vitamin D3 is synthesized and the body needs to rely on its storages of vitamin D3, or dietary vitamin D3 in the form of vitamin D3 and 25-hydroxyvitamin D3. The information of the size of the storages of vitamin D3 in humans is sparse, but very low levels...... of vitamin D3 is found in tissues from animals fed physiologically relevant doses of vitamin D3. The natural synthesis of vitamin D3 might, however, influence on the storages of vitamin D3. The different inherent properties of the two forms of vitamin D3 might also affect the tissue distribution of vitamin D...

Clinical efficacy of Myozyme on one ventilator dependent patient with late-onset glycogen storage disease typeⅡ

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Juan YANG

2014-05-01

Full Text Available Objective To evaluate the effect of Myozyme on one ventilator dependent patient with late-onset glycogen storage disease typeⅡ (GSDⅡ.  Methods Myozyme infusion was administered based on manufacturer's recommendations at 20 mg/kg every 2 to 4 weeks, beginning at actual body weight, and was continuously treated for 6 times. No premedication was performed except 5 mg dexamethasone was administered at the first use of Myozyme. Clinical assessment was completed every day and was lasted for 16 months including motor function, the time free of ventilation, and the change of respiration parameters.  Results Myozyme was well tolerated without adverse reactions. Pain on shoulder began to alleviate the next day after taking Myozyme. With the prolonged time and increased number of taking drugs, the time free of ventilation and doing in-situ stepping prolonged, and the speed of stepping in-situ also increased. Besides, the strength of lifting the upper limbs increased, and both the time and speed of walking free of ventilation prolonged. The maximus curative effect occured at the 7th month (3 months after drug withdrawal after treatment and returned to pre-treatment levels at the 8th month (4 months after drug withdrawal. The pain on shoulder was the first symptom that got improved, and the fastest symptom that returned to baseline.  Conclusions Myozyme has positive effect on ventilated patients with late-onset glycogen storage disease type Ⅱ. doi: 10.3969/j.issn.1672-6731.2014.05.009

Glycogen branching enzyme (GBE1) mutation causing equine glycogen storage disease IV.

Science.gov (United States)

Ward, Tara L; Valberg, Stephanie J; Adelson, David L; Abbey, Colette A; Binns, Matthew M; Mickelson, James R

2004-07-01

Comparative biochemical and histopathological evidence suggests that a deficiency in the glycogen branching enzyme, encoded by the GBE1 gene, is responsible for a recently identified recessive fatal fetal and neonatal glycogen storage disease (GSD) in American Quarter Horses termed GSD IV. We have now derived the complete GBE1 cDNA sequences for control horses and affected foals, and identified a C to A substitution at base 102 that results in a tyrosine (Y) to stop (X) mutation in codon 34 of exon 1. All 11 affected foals were homozygous for the X34 allele, their 11 available dams and sires were heterozygous, and all 16 control horses were homozygous for the Y34 allele. The previous findings of poorly branched glycogen, abnormal polysaccharide accumulation, lack of measurable GBE1 enzyme activity and immunodetectable GBE1 protein, coupled with the present observation of abundant GBE1 mRNA in affected foals, are all consistent with the nonsense mutation in the 699 amino acid GBE1 protein. The affected foal pedigrees have a common ancestor and contain prolific stallions that are likely carriers of the recessive X34 allele. Defining the molecular basis of equine GSD IV will allow for accurate DNA testing and the ability to prevent occurrence of this devastating disease affecting American Quarter Horses and related breeds.

Scientific basis for storage criteria for interim dry storage of aluminum-clad fuels

International Nuclear Information System (INIS)

Sindelar, R.L.; Peacock, H.B. Jr.; Lam, P.S.; Iyer, N.C.; Louthan, M.R. Jr.; Murphy, J.R.

1996-01-01

An engineered system for dry storage of aluminum-clad foreign and domestic research reactor spent fuel owned by the US Department of Energy is being considered to store the fuel up to a nominal period of 40 years prior to ultimate disposition. Scientifically-based criteria for environmental limits to drying and storing the fuels for this system are being developed to avoid excessive degradation in sealed and non-sealed (open to air) dry storage systems. These limits are based on consideration of degradation modes that can cause loss of net section of the cladding, embrittlement of the cladding, distortion of the fuel, or release of fuel and fission products from the fuel/clad system. Potential degradation mechanisms include corrosion mechanisms from exposure to air and/or sources of humidity, hydrogen blistering of the aluminum cladding, distortion of the fuel due to creep, and interdiffusion of the fuel and fission products with the cladding. The aluminum-clad research reactor fuels are predominantly highly-enriched aluminum uranium alloy fuel which is clad with aluminum alloys similar to 1100, 5052, and 6061 aluminum. In the absence of corrodant species, degradation due to creep and diffusion mechanisms limit the maximum fuel storage temperature to 200 C. The results of laboratory scale corrosion tests indicate that this fuel could be stored under air up to 200 C at low relative humidity levels (< 20%) to limit corrosion of the cladding and fuel (exposed to the storage environment through assumed pre-existing pits in the cladding). Excessive degradation of fuels with uranium metal up to 200 C can be avoided if the fuel is sufficiently dried and contained in a sealed system; open storage can be achieved if the temperature is controlled to avoid excessive corrosion even in dry air

Hybrid Hydro Renewable Energy Storage Model

Science.gov (United States)

Dey, Asit Kr

2018-01-01

This paper aims at presenting wind & tidal turbine pumped-storage solutions for improving the energy efficiency and economic sustainability of renewable energy systems. Indicated a viable option to solve problems of energy production, as well as in the integration of intermittent renewable energies, providing system flexibility due to energy load’s fluctuation, as long as the storage of energy from intermittent sources. Sea water storage energy is one of the best and most efficient options in terms of renewable resources as an integrated solution allowing the improvement of the energy system elasticity and the global system efficiency.

Macrophage models of Gaucher disease for evaluating disease pathogenesis and candidate drugs.

Science.gov (United States)

Aflaki, Elma; Stubblefield, Barbara K; Maniwang, Emerson; Lopez, Grisel; Moaven, Nima; Goldin, Ehud; Marugan, Juan; Patnaik, Samarjit; Dutra, Amalia; Southall, Noel; Zheng, Wei; Tayebi, Nahid; Sidransky, Ellen

2014-06-11

Gaucher disease is caused by an inherited deficiency of glucocerebrosidase that manifests with storage of glycolipids in lysosomes, particularly in macrophages. Available cell lines modeling Gaucher disease do not demonstrate lysosomal storage of glycolipids; therefore, we set out to develop two macrophage models of Gaucher disease that exhibit appropriate substrate accumulation. We used these cellular models both to investigate altered macrophage biology in Gaucher disease and to evaluate candidate drugs for its treatment. We generated and characterized monocyte-derived macrophages from 20 patients carrying different Gaucher disease mutations. In addition, we created induced pluripotent stem cell (iPSC)-derived macrophages from five fibroblast lines taken from patients with type 1 or type 2 Gaucher disease. Macrophages derived from patient monocytes or iPSCs showed reduced glucocerebrosidase activity and increased storage of glucocerebroside and glucosylsphingosine in lysosomes. These macrophages showed efficient phagocytosis of bacteria but reduced production of intracellular reactive oxygen species and impaired chemotaxis. The disease phenotype was reversed with a noninhibitory small-molecule chaperone drug that enhanced glucocerebrosidase activity in the macrophages, reduced glycolipid storage, and normalized chemotaxis and production of reactive oxygen species. Macrophages differentiated from patient monocytes or patient-derived iPSCs provide cellular models that can be used to investigate disease pathogenesis and facilitate drug development. Copyright © 2014, American Association for the Advancement of Science.

An autopsy case of vertebrobasilar dolichoectasia under hemodialysis due to autosomal dominant polycystic kidney disease

OpenAIRE

Nakagawa, Shiori; Furuichi, Kengo; Sagara, Akihiro; Shinozaki, Yasuyuki; Kitajima, Shinji; Toyama, Tadashi; Hara, Akinori; Iwata, Yasunori; Sakai, Norihiko; Shimizu, Miho; Matsui, Kazuhiro; Kaneko, Shuichi; Toyama, Tatsuhiko; Wada, Takashi

2015-01-01

A 60-year-old male with end-stage kidney disease due to autosomal polycystic kidney disease began maintenance hemodialysis in 2005. A brain CT scan showed dilatation of left vertebral artery, basilar artery, bilateral post cerebral artery, and middle cerebral artery. At the time, he was diagnosed as vertebrobasilar dolichoectasia. He was once admitted to our hospital for ischemic stroke. After discharge, he was treated with anticoagulant agent from 2010 to 2012 without any new stroke events. ...

Dataset and standard operating procedure for newborn screening of six lysosomal storage diseases: By tandem mass spectrometry

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Susan Elliott

2016-09-01

Full Text Available In this data article we provide a detailed standard operating procedure for performing a tandem mass spectrometry, multiplex assay of 6 lysosomal enzymes for newborn screening of the lysosomal storage diseases Mucopolysaccharidosis-I, Pompe, Fabry, Niemann-Pick-A/B, Gaucher, and Krabbe, (Elliott, et al., 2016 [1]. We also provide the mass spectrometry peak areas for the product and internal standard ions typically observed with a dried blood spot punch from a random newborn, and we provide the daily variation of the daily mean activities for all 6 enzymes.

Electricity Storage. Technology Brief

Energy Technology Data Exchange (ETDEWEB)

Simbolotti, G. [Italian National Agency for New Technologies, Energy and Sustainable Economic Development ENEA, Rome (Italy); Kempener, R. [International Renewable Energy Agency IRENA, Bonn (Germany)

2012-04-15

Electricity storage is a key technology for electricity systems with a high share of renewables as it allows electricity to be generated when renewable sources (i.e. wind, sunlight) are available and to be consumed on demand. It is expected that the increasing price of fossil fuels and peak-load electricity and the growing share of renewables will result in electricity storage to grow rapidly and become more cost effective. However, electricity storage is technically challenging because electricity can only be stored after conversion into other forms of energy, and this involves expensive equipment and energy losses. At present, the only commercial storage option is pumped hydro power where surplus electricity (e.g. electricity produced overnight by base-load coal or nuclear power) is used to pump water from a lower to an upper reservoir. The stored energy is then used to produce hydropower during daily high-demand periods. Pumped hydro plants are large-scale storage systems with a typical efficiency between 70% and 80%, which means that a quarter of the energy is lost in the process. Other storage technologies with different characteristics (i.e. storage process and capacity, conversion back to electricity and response to power demand, energy losses and costs) are currently in demonstration or pre-commercial stages and discussed in this brief report: Compressed air energy storage (CAES) systems, Flywheels; Electrical batteries; Supercapacitors; Superconducting magnetic storage; and Thermal energy storage. No single electricity storage technology scores high in all dimensions. The technology of choice often depends on the size of the system, the specific service, the electricity sources and the marginal cost of peak electricity. Pumped hydro currently accounts for 95% of the global storage capacity and still offers a considerable expansion potential but does not suit residential or small-size applications. CAES expansion is limited due to the lack of suitable

Catalysis and Downsizing in Mg-Based Hydrogen Storage Materials

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Jianding Li

2018-02-01

Full Text Available Magnesium (Mg-based materials are promising candidates for hydrogen storage due to the low cost, high hydrogen storage capacity and abundant resources of magnesium for the realization of a hydrogen society. However, the sluggish kinetics and strong stability of the metal-hydrogen bonding of Mg-based materials hinder their application, especially for onboard storage. Many researchers are devoted to overcoming these challenges by numerous methods. Here, this review summarizes some advances in the development of Mg-based hydrogen storage materials related to downsizing and catalysis. In particular, the focus is on how downsizing and catalysts affect the hydrogen storage capacity, kinetics and thermodynamics of Mg-based hydrogen storage materials. Finally, the future development and applications of Mg-based hydrogen storage materials is discussed.

Improving hydrogen storage in Ni-doped carbon nanospheres

Energy Technology Data Exchange (ETDEWEB)

Zubizarreta, L.; Menendez, J.A.; Pis, J.J.; Arenillas, A. [Instituto Nacional del Carbon, CSIC, Apartado 73, 33080 Oviedo (Spain)

2009-04-15

The effect of nickel distribution and content in Ni-doped carbon nanospheres on hydrogen storage capacity under conditions of moderate temperature and pressure was studied. It was found that the nickel distribution, obtained by using different doping techniques and conditions, has a noticeable influence on hydrogen storage capacity. The samples with the most homogeneous nickel distribution, obtained by pre-oxidising the carbon nanospheres, displayed the highest storage capacity. In addition, storage capacity is influenced by the amount of nickel. It was found a higher storage capacity in samples containing 5 wt.% of Ni. This is due to the greater interactions between the nickel and the support that produce a higher activation of the solid through a spillover effect. (author)

Progression of Mortality due to Diseases of the Circulatory System and Human Development Index in Rio de Janeiro Municipalities

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Gabriel Porto Soares

Full Text Available Abstract Background: Diseases of the circulatory system (DCS are the major cause of death in Brazil and worldwide. Objective: To correlate the compensated and adjusted mortality rates due to DCS in the Rio de Janeiro State municipalities between 1979 and 2010 with the Human Development Index (HDI from 1970 onwards. Methods: Population and death data were obtained in DATASUS/MS database. Mortality rates due to ischemic heart diseases (IHD, cerebrovascular diseases (CBVD and DCS adjusted by using the direct method and compensated for ill-defined causes. The HDI data were obtained at the Brazilian Institute of Applied Research in Economics. The mortality rates and HDI values were correlated by estimating Pearson linear coefficients. The correlation coefficients between the mortality rates of census years 1991, 2000 and 2010 and HDI data of census years 1970, 1980 and 1991 were calculated with discrepancy of two demographic censuses. The linear regression coefficients were estimated with disease as the dependent variable and HDI as the independent variable. Results: In recent decades, there was a reduction in mortality due to DCS in all Rio de Janeiro State municipalities, mainly because of the decline in mortality due to CBVD, which was preceded by an elevation in HDI. There was a strong correlation between the socioeconomic indicator and mortality rates. Conclusion: The HDI progression showed a strong correlation with the decline in mortality due to DCS, signaling to the relevance of improvements in life conditions.

Progression of Mortality due to Diseases of the Circulatory System and Human Development Index in Rio de Janeiro Municipalities

Science.gov (United States)

Soares, Gabriel Porto; Klein, Carlos Henrique; Silva, Nelson Albuquerque de Souza e; de Oliveira, Glaucia Maria Moraes

2016-01-01

Background Diseases of the circulatory system (DCS) are the major cause of death in Brazil and worldwide. Objective To correlate the compensated and adjusted mortality rates due to DCS in the Rio de Janeiro State municipalities between 1979 and 2010 with the Human Development Index (HDI) from 1970 onwards. Methods Population and death data were obtained in DATASUS/MS database. Mortality rates due to ischemic heart diseases (IHD), cerebrovascular diseases (CBVD) and DCS adjusted by using the direct method and compensated for ill-defined causes. The HDI data were obtained at the Brazilian Institute of Applied Research in Economics. The mortality rates and HDI values were correlated by estimating Pearson linear coefficients. The correlation coefficients between the mortality rates of census years 1991, 2000 and 2010 and HDI data of census years 1970, 1980 and 1991 were calculated with discrepancy of two demographic censuses. The linear regression coefficients were estimated with disease as the dependent variable and HDI as the independent variable. Results In recent decades, there was a reduction in mortality due to DCS in all Rio de Janeiro State municipalities, mainly because of the decline in mortality due to CBVD, which was preceded by an elevation in HDI. There was a strong correlation between the socioeconomic indicator and mortality rates. Conclusion The HDI progression showed a strong correlation with the decline in mortality due to DCS, signaling to the relevance of improvements in life conditions. PMID:27849263

Environmental report for rod storage. Volume V

International Nuclear Information System (INIS)

Danese, F.L.

1981-09-01

Volume V of this report examines the environmental impact of the rod consolidation program. The postulated, nonsite-specific, differential impacts are primarily additional occupational exposures due to the rod storage operations. Other potential radiological and nonradiological impacts that are identified and addressed are negligible. There are no increases in population exposures except those associated with transportation of spent fuel and waste material. The increased utilization of existing spent fuel storage space could result in a decrease in the nonrecoverable material resources lost to new permanent spent fuel storage

Hydrogen storage behaviors of platinum-supported multi-walled carbon nanotubes

Energy Technology Data Exchange (ETDEWEB)

Park, Soo-Jin; Lee, Seul-Yi [Department of Chemistry, Inha University, 253 Nam-gu, Incheon 402-751 (Korea, Republic of)

2010-12-15

In this work, the hydrogen storage behaviors of multi-walled carbon nanotubes (MWNTs) loaded by crystalline platinum (Pt) particles were studied. The microstructure of the Pt/MWNTs was characterized by X-ray diffraction and transmission electron microscopy. The pore structure and total pore volumes of the Pt/MWNTs were analyzed by N{sub 2}/77 K adsorption isotherms. The hydrogen storage capacity of the Pt/MWNTs was evaluated at 298 K and 100 bar. From the experimental results, it was found that Pt particles were homogeneously distributed on the MWNT surfaces. The amount of hydrogen storage capacity increased in proportion to the Pt content, with Pt-5/MWNTs exhibiting the largest hydrogen storage capacity. The superior amount of hydrogen storage was linked to an increase in the number of active sites and the optimum-controlled micropore volume for hydrogen adsorption due to the well-dispersed Pt particles. Therefore, it can be concluded that Pt particles play an important role in hydrogen storage characteristics due to the hydrogen spillover effect. (author)

Development of a Suspicion Index to aid diagnosis of Niemann-Pick disease type C

NARCIS (Netherlands)

Wijburg, F. A.; Sedel, F.; Pineda, M.; Hendriksz, C. J.; Fahey, M.; Walterfang, M.; Patterson, M. C.; Wraith, J. E.; Kolb, S. A.

2012-01-01

Objectives: Niemann-Pick disease type C (NP-C) is a rare, autosomal recessive lysosomal lipid storage disorder that is invariably fatal. NP-C diagnosis can be delayed for years due to heterogeneous presentation; adult-onset NP-C can be particularly difficult to diagnose. We developed a Suspicion

Differentiation of norm and pathology during selective biochemical skreening of lysosomal storage diseases with increased excretion of oligosaccharides

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N. Y. Mytsyk

2015-06-01

Full Text Available Oligosaccharides are a class of polymeric carbohydrates, which are constituents of a glycoside portion of glycoprotein and glycolipid molecules. The lysosomal hydrolase dysfunction due to lysosomal storage disorders results in partial or complete failure of degradation of some glycoproteins and glycolipids, causing the accumulation of specific undegraded substrates in the lysosomes of cells, the formation of the great number of oligosaccharide chains and their increased excretion with urine. Our work was aimed at detailed study of the specificities of interpreting the results of thin-layer chromatography (TLC of urine oligosaccharides in healthy persons of different age groups with the purpose of further application of these data while differentiating the norm and pathology in the course of primary selective screening of lysosomal storage disorders. The results obtained demonstrated that TLC plates for the majority of healthy persons had insignificant excretion of a number of oligosaccharides (from monosaccharides to hexasaccharides with Rlac > 0.15, which can be characterized as physiological oligosacchariduria, conditioned by the metabolism specificities in lysosomes. Therefore while interpreting the urine samples of patients with the suspected lysosomal storage disorder it is diagnostically reasonable to examine the TLC plates for the presence of both oligosaccharide groups, absent in the samples of healthy persons, and all the fractions with Rlac < 0.15.

AAV8-mediated expression of glucocerebrosidase ameliorates the storage pathology in the visceral organs of a mouse model of Gaucher disease.

Science.gov (United States)

McEachern, Kerry Anne; Nietupski, Jennifer B; Chuang, Wei-Lien; Armentano, Donna; Johnson, Jennifer; Hutto, Elizabeth; Grabowski, Gregory A; Cheng, Seng H; Marshall, John

2006-06-01

Gaucher disease is the most common of the lysosomal storage disorders. The primary manifestation is the accumulation of glucosylceramide (GL-1) in the macrophages of liver and spleen (Gaucher cells), due to a deficiency in the lysosomal hydrolase glucocerebrosidase (GC). A Gaucher mouse model (D409V/null) exhibiting reduced GC activity and accumulation of GL-1 was used to evaluate adeno-associated viral (AAV)-mediated gene therapy. A recombinant AAV8 serotype vector bearing human GC (hGC) was administered intravenously to the mice. The levels of hGC in blood and tissues were determined, as were the effects of gene transfer on the levels of GL-1. Histopathological evaluation was performed on liver, spleen and lungs. Vector administration to pre-symptomatic Gaucher mice resulted in sustained hepatic secretion of hGC at levels that prevented GL-1 accumulation and the appearance of Gaucher cells in the liver, spleen and lungs. AAV administration to older mice with established disease resulted in normalization of GL-1 levels in the spleen and liver and partially reduced that in the lung. Analysis of the bronchoalveolar lavage fluid (BALF) from treated mice showed significant correction of the abnormal cellularity and cell differentials. No antibodies to the expressed hGC were detected following a challenge with recombinant enzyme suggesting the animals were tolerized to human enzyme. These data demonstrate the effectiveness of AAV-mediated gene therapy at preventing and correcting the biochemical and pathological abnormalities in a Gaucher mouse model, and thus support the continued consideration of this vector as an alternative approach to treating Gaucher disease. Copyright 2006 John Wiley & Sons, Ltd.

Integrated Bidding and Operating Strategies for Wind-Storage Systems

DEFF Research Database (Denmark)

Ding, Huajie; Pinson, Pierre; Hu, Zechun

2016-01-01

Due to their flexible charging and discharging capabilities, energy storage systems (ESS) are considered a promising complement to wind farms (WFs) participating in electricity markets. This paper presents integrated day-ahead bidding and real-time operation strategies for a wind-storage system...

Steryl ester synthesis, storage and hydrolysis: A contribution to sterol homeostasis.

Science.gov (United States)

Korber, Martina; Klein, Isabella; Daum, Günther

2017-12-01

Sterols are essential lipids of all eukaryotic cells, appearing either as free sterols or steryl esters. Besides other regulatory mechanisms, esterification of sterols and hydrolysis of steryl esters serve to buffer both an excess and a lack of free sterols. In this review, the esterification process, the storage of steryl esters and their mobilization will be described. Several model organisms are discussed but the focus was set on mammals and the yeast Saccharomyces cerevisiae. The contribution of imbalanced cholesterol homeostasis to several human diseases, namely Wolman disease, cholesteryl ester storage disease, atherosclerosis and Alzheimer's disease, Niemann-Pick type C and Tangier disease is described. Copyright © 2017 Elsevier B.V. All rights reserved.

PATIENT-REPORTED OUTCOMES IN RARE LYSOSOMAL STORAGE DISEASES: KEY INFORMANT INTERVIEWS AND A SYSTEMATIC REVIEW PROTOCOL.

Science.gov (United States)

Miller, Patricia A; Mulla, Sohail M; Adams-Webber, Thomasin; Sivji, Yasmin; Guyatt, Gordon H; Johnston, Bradley C

2016-01-01

To investigate the use, challenges and opportunities associated with using patient-reported outcomes (PROs) in studies with patients with rare lysosomal storage diseases (LSDs), we conducted interviews with researchers and health technology assessment (HTA) experts, and developed the methods for a systematic review of the literature. The purpose of the review is to identify the psychometrically sound generic and disease-specific PROs used in studies with patients with five LSDs of interest: Fabry, Gaucher (Type I), Niemann-Pick (Type B) and Pompe diseases, and mucopolysaccharidosis (Types I and II). Researchers and HTA experts who responded to an email invitation participated in a telephone interview. We used qualitative content analysis to analyze the anonymized transcripts. We conducted a comprehensive literature search for studies that used PROs to investigate burden of disease or to assess the impact of interventions across the five LSDs of interest. Interviews with seven researchers and six HTA experts representing eight countries revealed five themes. These were: (i) the importance of using psychometrically sound PROs in studies with rare diseases, (ii) the paucity of disease-specific PROs, (iii) the importance of having PRO data for economic analyses, (iv) practical and psychometric limitations of existing PROs, and (v) suggestions for new PROs. The systematic review has been completed. The interviews highlight current challenges and opportunities experienced by researchers and HTA experts involved in work with rare LSDs. The ongoing systematic review will highlight the experience, opportunities, and limitations of PROs in LSDs and provide suggestions for future research.

Hospital Admission for Respiratory and Cardiovascular Diseases Due to Particulate Matter in Ilam, Iran

Directory of Open Access Journals (Sweden)

Daryanoosh

2016-09-01

Full Text Available Background Particulate matter with an aerodynamic diameter lower than 10 µm (PM10 has the most undesired adverse effects on human health. Several studies reported a strong correlation between PM levels and hospital admissions owing to chronic and acute respiratory and cardiovascular diseases. Objectives The current study aimed to estimate the effect of PM10 as a primary pollutant on respiratory and cardiovascular hospitalizations in Ilam, Iran, in 2013. Methods PM10 data was taken from the Ilam environmental protection agency. The annual morbidity including hospital admission for respiratory and cardiovascular diseases due to PM10 exposure were estimated using relative risk (RR and baseline incidence (BI based on world health organization (WHO databases for AirQ2.2.3 model. Results The results showed that the maximum level of PM10 was obtained in summer with a concentration of 491 μg/m3. The cumulative number of excess cases admitted to the hospital for respiratory and cardiovascular diseases were 216 and 84, respectively. Approximately 3.95% of the cases hospitalized due to PM10 occurred during days with concentration levels lower than 20 μg/m3. The highest rate of person-days related to PM10 that led to heath effect among Ahvaz inhabitants was in concentration levels of 40 - 49 µg/m3. Conclusions To reduce the impacts of particulate matter on health status of people in Ilam, necessary training by health systems should be conducted for people, especially those with chronic lung and heart diseases, the elderly and children to reduce their activities on the dusty days.

Energy Storage Requirements for Achieving 50% Solar Photovoltaic Energy Penetration in California

Energy Technology Data Exchange (ETDEWEB)

Denholm, Paul; Margolis, Robert

2016-08-01

We estimate the storage required to enable PV penetration up to 50% in California (with renewable penetration over 66%), and we quantify the complex relationships among storage, PV penetration, grid flexibility, and PV costs due to increased curtailment. We find that the storage needed depends strongly on the amount of other flexibility resources deployed. With very low-cost PV (three cents per kilowatt-hour) and a highly flexible electric power system, about 19 gigawatts of energy storage could enable 50% PV penetration with a marginal net PV levelized cost of energy (LCOE) comparable to the variable costs of future combined-cycle gas generators under carbon constraints. This system requires extensive use of flexible generation, transmission, demand response, and electrifying one quarter of the vehicle fleet in California with largely optimized charging. A less flexible system, or more expensive PV would require significantly greater amounts of storage. The amount of storage needed to support very large amounts of PV might fit within a least-cost framework driven by declining storage costs and reduced storage-duration needs due to high PV penetration.

Genetic and Biological Changes of Newcastle Disease Virus Due to The Development of Chicken Production System

Directory of Open Access Journals (Sweden)

Sudarisman

2009-09-01

Full Text Available In many countries, Newcastle Disease (ND is one of the most important diseases of poultry. It causes serious economic losses in poultry industry. Newcastle Disease or pseudo-fowl pest is a highly infectious viral disease that causes very high mortality (up to 100% in severe epidemics in poultry and wild birds around the world. Newcastle Disease remains endemic in many regions and continues to severely limit poultry production in some developing countries. The disease is currently being controlled by routine vaccinations in many countries. However, it was reported that outbreaks of ND in vaccinated flocks often occur on the field may not only be due to differences in the antigenicity of the NDV wild field strains and vaccine strains, but could also be as a result of differences in pathogenicity and virulence between different strains used as vaccine seed in NDV vaccine production.

CSF studies facilitate DNA diagnosis in familial Alzheimer's disease due to a presenilin-1 mutation

NARCIS (Netherlands)

de Bot, Susanne T; Kremer, H P H; Dooijes, Dennis; Verbeek, Marcel M

2009-01-01

In sporadic Alzheimer's disease (AD), cerebrospinal fluid (CSF) analysis is becoming increasingly relevant to establish an early diagnosis. We present a case of familial AD due to a presenilin-1 mutation in which CSF studies suggested appropriate DNA diagnostics. A 38 year old Dutch man presented

[Progressive pulmonary hypertension in a patient with type 1 Gaucher disease].

Science.gov (United States)

Ponomarev, R V; Model, S V; Averbukh, O M; Gavrilov, A M; Galstyan, G M; Lukina, E A

Gaucher disease is the most common form of hereditary enzymopathies combined into a group of lysosomal storage diseases. The basis for the disease is a hereditary deficiency of the activity of acid β-glucosidase, a lysosomal enzyme involved in the catabolism of lipids, which results in the accumulation of nonutilized cellular metabolism products in the macrophage lysosomes. The main clinical manifestations of type 1 Gaucher disease are cytopenia, hepatomegaly, and splenomegaly, and bone lesion. One of the atypical clinical manifestations of Gaucher disease is damage to the lungs with the development of pulmonary hypertension, which is usually considered within the underlying disease - the development of pneumosclerosis due to macrophage dysfunction. The paper describes a case of progressive pulmonary hypertension in a patient with type 1 Gaucher disease.

A saposin deficiency model in Drosophila: Lysosomal storage, progressive neurodegeneration and sensory physiological decline.

Science.gov (United States)

Hindle, Samantha J; Hebbar, Sarita; Schwudke, Dominik; Elliott, Christopher J H; Sweeney, Sean T

2017-02-01

Saposin deficiency is a childhood neurodegenerative lysosomal storage disorder (LSD) that can cause premature death within three months of life. Saposins are activator proteins that promote the function of lysosomal hydrolases that mediate the degradation of sphingolipids. There are four saposin proteins in humans, which are encoded by the prosaposin gene. Mutations causing an absence or impaired function of individual saposins or the whole prosaposin gene lead to distinct LSDs due to the storage of different classes of sphingolipids. The pathological events leading to neuronal dysfunction induced by lysosomal storage of sphingolipids are as yet poorly defined. We have generated and characterised a Drosophila model of saposin deficiency that shows striking similarities to the human diseases. Drosophila saposin-related (dSap-r) mutants show a reduced longevity, progressive neurodegeneration, lysosomal storage, dramatic swelling of neuronal soma, perturbations in sphingolipid catabolism, and sensory physiological deterioration. Our data suggests a genetic interaction with a calcium exchanger (Calx) pointing to a possible calcium homeostasis deficit in dSap-r mutants. Together these findings support the use of dSap-r mutants in advancing our understanding of the cellular pathology implicated in saposin deficiency and related LSDs. Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved.

Compacted spent-fuel storage--designs and problems

International Nuclear Information System (INIS)

Rubinstein, H.J.; Gilcrest, J.D.; Kendall, W.R.

1979-01-01

Typical rack designs, licensing, contracting methods, installation and operational problems are described. Due to the lack of reprocessing and independent fuel storage facilities, new plants built in the United States will continue to install high-density spent-fuel storage racks. As to the rack designs, the most significant feature is the introduction of freestanding rack designs. The trends in spent-fuel storage appear to be toward the use of high-density racks, either with or without absorber, for all plants in the design, construction, or operation phase; the use of freestanding rack designs; and the separation of engineering and fabrication during procurement

Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil

Directory of Open Access Journals (Sweden)

Heydy Bravo

2017-09-01

Full Text Available Lysosomal storage diseases (LSDs are genetic disorders, clinically heterogeneous, mainly caused by defects in genes encoding lysosomal enzymes that degrade macromolecules. Several LSDs already have specific therapies that may improve clinical outcomes, especially if introduced early in life. With this aim, screening methods have been established and newborn screening (NBS for some LSDs has been developed. Such programs should include additional procedures for the confirmation (or not of the cases that had an abnormal result in the initial screening. We present here the methods and results of the additional investigation performed in four babies with positive initial screening results in a program of NBS for LSDs performed by a private laboratory in over 10,000 newborns in Brazil. The suspicion in these cases was of Mucopolysaccharidosis I - MPS I (in two babies, Pompe disease and Gaucher disease (one baby each. One case of pseudodeficiency for MPS I, 1 carrier for MPS I, 1 case of pseudodeficiency for Pompe disease and 1 carrier for Gaucher disease were identified. This report illustrates the challenges that may be encountered by NBS programs for LSDs, and the need of a comprehensive protocol for the rapid and precise investigation of the babies who have an abnormal screening result.

Ultrasonic monitoring of Iberian fat crystallization during cold storage

International Nuclear Information System (INIS)

Corona, E; García-Pérez, J V; Santacatalina, J V; Peña, R; Benedito, J

2012-01-01

The aim of this work was to evaluate the use of ultrasonic measurements to characterize the crystallization process and to assess the textural changes of Iberian fat and Iberian ham during cold storage. The ultrasonic velocity was measured in two types of Iberian fats (Montanera and Cebo) during cold storage (0, 2, 5, 7 and 10 °C) and in vacuum packaged Iberian ham stored at 6°C for 120 days. The fatty acid profile, thermal behaviour and textural properties of fat were determined. The ultrasonic velocity and textural measurements showed a two step increase during cold storage, which was related with the separate crystallization of two fractions of triglycerides. It was observed that the harder the fat, the higher the ultrasonic velocity. Likewise, Cebo fat resulted harder than Montanera due to a higher content of saturated triglycerides. The ultrasonic velocity in Iberian ham showed an average increase of 55 m/s after 120 days of cold storage due to fat crystallization. Thus, non-destructive ultrasonic technique could be a reliable method to follow the crystallization of fats and to monitor the changes in the textural properties of Iberian ham during cold storage.

Metal-Organic Framework-Derived Materials for Sodium Energy Storage.

Science.gov (United States)

Zou, Guoqiang; Hou, Hongshuai; Ge, Peng; Huang, Zhaodong; Zhao, Ganggang; Yin, Dulin; Ji, Xiaobo

2018-01-01

Recently, sodium-ion batteries (SIBs) are extensively explored and are regarded as one of the most promising alternatives to lithium-ion batteries for electrochemical energy conversion and storage, owing to the abundant raw material resources, low cost, and similar electrochemical behavior of elemental sodium compared to lithium. Metal-organic frameworks (MOFs) have attracted enormous attention due to their high surface areas, tunable structures, and diverse applications in drug delivery, gas storage, and catalysis. Recently, there has been an escalating interest in exploiting MOF-derived materials as anodes for sodium energy storage due to their fast mass transport resulting from their highly porous structures and relatively simple preparation methods originating from in situ thermal treatment processes. In this Review, the recent progress of the sodium-ion storage performances of MOF-derived materials, including MOF-derived porous carbons, metal oxides, metal oxide/carbon nanocomposites, and other materials (e.g., metal phosphides, metal sulfides, and metal selenides), as SIB anodes is systematically and completely presented and discussed. Moreover, the current challenges and perspectives of MOF-derived materials in electrochemical energy storage are discussed. © 2017 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

The Spectrum of Neurological Manifestations Associated with Gaucher Disease

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Tamanna Roshan Lal

2017-03-01

Full Text Available Gaucher disease, the most common lysosomal storage disorder, is due to a deficiency in the enzyme glucocerebrosidase. This leads to the accumulation of its normal substrate, glucocerebroside, in tissue macrophages, affecting the hematological, visceral, bone and neurologic systems. Gaucher disease is classified into three broad phenotypes based upon the presence or absence of neurological involvement: type 1 (non-neuronopathic, type 2 (acute neuronopathic, and type 3 (subacute neuronopathic. Phenotypically, there is a wide spectrum of visceral and neurological manifestations. Enzyme replacement is effective in managing the visceral disease; however, treating the neurological manifestations has proved to be more challenging. This review discusses the various neurological manifestations encountered in Gaucher disease, and provides a brief overview regarding the treatment and ongoing research challenges.

QT Prolongation due to Graves’ Disease

Directory of Open Access Journals (Sweden)

Zain Kulairi

2017-01-01

Full Text Available Hyperthyroidism is a highly prevalent disease affecting over 4 million people in the US. The disease is associated with many cardiac complications including atrial fibrillation and also less commonly with ventricular tachycardia and fibrillation. Many cardiac pathologies have been extensively studied; however, the relationship between hyperthyroidism and rate of ventricular repolarization manifesting as a prolonged QTc interval is not well known. Prolonged QTc interval regardless of thyroid status is a risk factor for cardiovascular mortality and life-threatening ventricular arrhythmia. The mechanism regarding the prolongation of the QT interval in a hyperthyroid patient has not been extensively investigated although its clinical implications are relevant. Herein, we describe a case of prolonged QTc in a patient who presented with signs of hyperthyroidism that was corrected with return to euthyroid status.

Increased de novo lipogenesis and delayed conversion of large VLDL into intermediate density lipoprotein particles contribute to Hyperlipidemia in glycogen storage disease type 1a

NARCIS (Netherlands)

Bandsma, Robert H. J.; Prinsen, Berthil H.; Van Der Velden, Monique De Sain; Rake, Jan-Peter; Boer, Theo; Smit, G. Peter A.; Reijngoud, Dirk-Jan; Kuipers, Folkert

Glycogen storage disease type 1a (GSD-1a) is a metabolic disorder characterized by fasting-induced hypoglycemia, hepatic steatosis, and hyperlipidemia. The mechanisms underlying the lipid abnormalities are largely unknown. To investigate these mechanisms seven GSD-1a patients and four healthy

Upper airway obstruction and pulmonary abnormalities due to lymphoproliferative disease following bone marrow transplantation in children

Energy Technology Data Exchange (ETDEWEB)

Fletcher, B.D. [Department of Diagnostic Imaging, St. Jude Children`s Research Hospital, 332 N. Lauderdale St., Memphis, TN 38105 (United States)]|[Departments of Radiology and Pediatrics, University of Tennessee, Memphis, Tennessee (United States); Heslop, H.E. [Department of Hematology/Oncology, St. Jude Children`s Research Hospital, Department of Pediatrics, University of Tennessee, Memphis, Tennessee (United States); Kaste, S.C. [Department of Diagnostic Imaging, St. Jude Children`s Research Hospital, Department of Radiology, University of Tennessee, Memphis, Tennessee (United States); Bodner, S. [Department of Pathology, St. Jude Children`s Research Hospital, Department of Pathology, University of Tennessee, Memphis, Tennessee (United States)

1998-07-01

We report three patients who developed severe supraglottic airway obstruction due to Epstein-Barr virus lymphoproliferative disease following allogeneic bone marrow transplantation. In addition to enlarged pharyngeal lymphoid tissue seen in all three patients, two had supraglottic airway narrowing and two developed pulmonary lymphoproliferative disease. They were treated with unmanipulated T cells or EBV-specific cytotoxic T lymphocytes. Life-threatening upper airway obstruction is a radiologically detectable complication of allogeneic bone marrow transplantation in children. (orig.) With 3 figs., 1 tab., 12 refs.

CT coronary angiography in patients with suspected angina due to coronary heart disease (SCOT-HEART): an open-label, parallel-group, multicentre trial.

Science.gov (United States)

2015-06-13

The benefit of CT coronary angiography (CTCA) in patients presenting with stable chest pain has not been systematically studied. We aimed to assess the effect of CTCA on the diagnosis, management, and outcome of patients referred to the cardiology clinic with suspected angina due to coronary heart disease. In this prospective open-label, parallel-group, multicentre trial, we recruited patients aged 18-75 years referred for the assessment of suspected angina due to coronary heart disease from 12 cardiology chest pain clinics across Scotland. We randomly assigned (1:1) participants to standard care plus CTCA or standard care alone. Randomisation was done with a web-based service to ensure allocation concealment. The primary endpoint was certainty of the diagnosis of angina secondary to coronary heart disease at 6 weeks. All analyses were intention to treat, and patients were analysed in the group they were allocated to, irrespective of compliance with scanning. This study is registered with ClinicalTrials.gov, number NCT01149590. Between Nov 18, 2010, and Sept 24, 2014, we randomly assigned 4146 (42%) of 9849 patients who had been referred for assessment of suspected angina due to coronary heart disease. 47% of participants had a baseline clinic diagnosis of coronary heart disease and 36% had angina due to coronary heart disease. At 6 weeks, CTCA reclassified the diagnosis of coronary heart disease in 558 (27%) patients and the diagnosis of angina due to coronary heart disease in 481 (23%) patients (standard care 22 [1%] and 23 [1%]; pheart disease increased (1·09, 1·02-1·17; p=0·0172), the certainty increased (1·79, 1·62-1·96; pheart disease. This changed planned investigations (15% vs 1%; pheart disease, CTCA clarifies the diagnosis, enables targeting of interventions, and might reduce the future risk of myocardial infarction. The Chief Scientist Office of the Scottish Government Health and Social Care Directorates funded the trial with supplementary awards

Gaucher disease. Unusual presentation and mini-review.

Science.gov (United States)

Rizk, Tamer M; Ariganjoye, Rafiu O; Alsaeed, Gihad I

2015-07-01

We aim to describe an 8-year-old boy with an unusual clinical presentation of Gaucher disease (GD). Gaucher disease is a progressive lysosomal storage disorder due to deficiency of the specific enzyme glucocerebrosidase with varying clinical features, but often involving the monocytes-macrophages systems. This child ran a progressive course with a devastating outcome. Three distinct GD subtypes have been described with varying clinical features based on the presence or absence of neurologic involvement. Gaucher disease diagnosis is obtained via: enzyme activity assay, gene mutation study, bone marrow aspiration in addition to multiple other tests that have been successfully used in diagnosis of cases of GD. Treatment modalities include enzyme replacement treatment, substrate reduction therapy, bone marrow transplantation, blood transfusion, and surgery are available management modalities for GD. Gaucher disease is a chronic disease requiring a multidisciplinary team approach with regular follow up with multiple subspecialties.

Vacuum-assisted wound closure for the management of a foot ulcer due to Buerger's disease.

Science.gov (United States)

Canter, Halil Ibrahim; Isci, Evren; Erk, Yucel

2009-02-01

Thromboangiitis obliterans is a segmental inflammatory disease of the small- and medium-sized vessels mainly affecting the extremities. Although there are numerous reports concerning the treatment of these debilitating, chronic ulcers, such as skin grafting, local flaps, and free flaps, this report is the first published case of a patient with Buerger's disease, successfully managed with vacuum-assisted closure (VAC) application. This therapy decreases the period of hospital stay and increases patient comfort between dressings. Further clinical studies are needed to demonstrate the effectiveness and safety of VAC therapy in treatment of ulcers due to different kinds of vasculitis.

Design criteria tank farm storage and staging facility

International Nuclear Information System (INIS)

Lott, D.T.

1995-01-01

Tank Farms Operations must store/stage material and equipment until work packages are ready to work. Consumable materials are also required to be stored for routine and emergency work. Safety issues based on poor housekeeping and material deterioration due to weather damage has resulted from inadequate storage space. It has been determined that a storage building in close proximity to the Tank Farm work force would be cost effective. This document provides the design criteria for the design of the storage and staging buildings near 272AW and 272WA buildings

Cardiogenic shock due to coronary artery disease associated with interrupted aortic arch

Directory of Open Access Journals (Sweden)

Luís Alberto Oliveira Dallan

2013-06-01

Full Text Available Acute pulmonary edema is a serious event. Its occurrence in association with interrupted aortic arch and coronary heart disease is rare. Recently, an old patient developed cardiogenic shock and acute pulmonary edema due to acute coronary insufficiency, associated with interrupted aortic arch. The coronary angiography revealed occlusion of the right coronary artery and 95% obstruction in the left main coronary artery, associated with interruption of the descending aorta. Coronary artery bypass graft was performed, without extracorporeal circulation, to the anterior descending coronary artery. We discuss the initial management, given the seriousness of the case.

Analysis of lipid profile in lipid storage myopathy.

Science.gov (United States)

Aguennouz, M'hammed; Beccaria, Marco; Purcaro, Giorgia; Oteri, Marianna; Micalizzi, Giuseppe; Musumesci, Olimpia; Ciranni, Annmaria; Di Giorgio, Rosa Maria; Toscano, Antonio; Dugo, Paola; Mondello, Luigi

2016-09-01

Lipid dysmetabolism disease is a condition in which lipids are stored abnormally in organs and tissues throughout the body, causing muscle weakness (myopathy). Usually, the diagnosis of this disease and its characterization goes through dosage of Acyl CoA in plasma accompanied with evidence of droplets of intra-fibrils lipids in the patient muscle biopsy. However, to understand the pathophysiological mechanisms of lipid storage diseases, it is useful to identify the nature of lipids deposited in muscle fiber. In this work fatty acids and triglycerides profile of lipid accumulated in the muscle of people suffering from myopathies syndromes was characterized. In particular, the analyses were carried out on the muscle biopsy of people afflicted by lipid storage myopathy, such as multiple acyl-coenzyme A dehydrogenase deficiency, and neutral lipid storage disease with myopathy, and by the intramitochondrial lipid storage dysfunctions, such as deficiencies of carnitine palmitoyltransferase II enzyme. A single step extraction and derivatization procedure was applied to analyze fatty acids from muscle tissues by gas chromatography with a flame ionization detector and with an electronic impact mass spectrometer. Triglycerides, extracted by using n-hexane, were analyzed by high performance liquid chromatography coupled to mass spectrometer equipped with an atmospheric pressure chemical ionization interface. The most representative fatty acids in all samples were: C16:0 in the 13-24% range, C18:1n9 in the 20-52% range, and C18:2n6 in the 10-25% range. These fatty acids were part of the most representative triglycerides in all samples. The data obtained was statistically elaborated performing a principal component analysis. A satisfactory discrimination was obtained among the different diseases. Using component 1 vs component 3 a 43.3% of total variance was explained. Such results suggest the important role that lipid profile characterization can have in supporting a correct

Optically-controlled long-term storage and release of thermal energy in phase-change materials

OpenAIRE

Han, Grace G. D.; Li, Huashan; Grossman, Jeffrey C.

2017-01-01

Thermal energy storage offers enormous potential for a wide range of energy technologies. Phase-change materials offer state-of-the-art thermal storage due to high latent heat. However, spontaneous heat loss from thermally charged phase-change materials to cooler surroundings occurs due to the absence of a significant energy barrier for the liquid–solid transition. This prevents control over the thermal storage, and developing effective methods to address this problem has remained an elusive ...

French Approach for Long Term Storage Safety

International Nuclear Information System (INIS)

Marciano, Jacob; Carreton, Jean-Pierre; Lizot, Marie Therese; Lhomme, Veronique

2014-01-01

IRSN presents its statement regarding long-term storage facilities; in France, the regulatory documents do not define the long term duration. The storage facility lifetime can only be appreciated according to the needs and materials stored therein. However, the magnitude of the long-term can be estimated at a few hundred years compared to a few decades for current storage. Usually, in France, construction of storage facilities is driven from the necessity various necessities, linked to the management of radioactive material (eg spent fuel) and to the management of radioactive waste. Because of the variety of 'stored materials and objects' (fission product solutions, plutonium oxide powders, activated solids, drums containing technological waste, spent fuel...), a great number of storage facility design solutions have been developed (surface, subsurface areas, dry or wet conditions...) in the World. After describing the main functions of a storage facility, IRSN displays the safety principles and the associated design principles. The specific design principles applied to particular storage (dry or wet spent fuel storage, depleted uranium or reprocessed uranium storage, plutonium storage, waste containing tritium storage, HLW and ILLW storage...) are also presented. Finally, the concerns due to the long-term duration storage and related safety assessment are developed. After discussing these issues, IRSN displays its statement. The authorization procedures governing the facility lifetime are similar to those of any basic nuclear installation, the continuation of the facility operation remaining subject to periodic safety reviews (in France, every 10 years). The applicant safety cases have to show, that the safety requirements are always met; this requires, at minimum, to take into account at the design stage, comfortable design margins. (author)

Estimating challenge load due to disease outbreaks and other challenges using reproduction records of sows.

Science.gov (United States)

Mathur, P K; Herrero-Medrano, J M; Alexandri, P; Knol, E F; ten Napel, J; Rashidi, H; Mulder, H A

2014-12-01

A method was developed and tested to estimate challenge load due to disease outbreaks and other challenges in sows using reproduction records. The method was based on reproduction records from a farm with known disease outbreaks. It was assumed that the reduction in weekly reproductive output within a farm is proportional to the magnitude of the challenge. As the challenge increases beyond certain threshold, it is manifested as an outbreak. The reproduction records were divided into 3 datasets. The first dataset called the Training dataset consisted of 57,135 reproduction records from 10,901 sows from 1 farm in Canada with several outbreaks of porcine reproductive and respiratory syndrome (PRRS). The known disease status of sows was regressed on the traits number born alive, number of losses as a combination of still birth and mummified piglets, and number of weaned piglets. The regression coefficients from this analysis were then used as weighting factors for derivation of an index measure called challenge load indicator. These weighting factors were derived with i) a two-step approach using residuals or year-week solutions estimated from a previous step, and ii) a single-step approach using the trait values directly. Two types of models were used for each approach: a logistic regression model and a general additive model. The estimates of challenge load indicator were then compared based on their ability to detect PRRS outbreaks in a Test dataset consisting of records from 65,826 sows from 15 farms in the Netherlands. These farms differed from the Canadian farm with respect to PRRS virus strains, severity and frequency of outbreaks. The single-step approach using a general additive model was best and detected 14 out of the 15 outbreaks. This approach was then further validated using the third dataset consisting of reproduction records of 831,855 sows in 431 farms located in different countries in Europe and America. A total of 41 out of 48 outbreaks detected

Energy storage

International Nuclear Information System (INIS)

Anon.

1992-01-01

This chapter discusses the role that energy storage may have on the energy future of the US. The topics discussed in the chapter include historical aspects of energy storage, thermal energy storage including sensible heat storage, latent heat storage, thermochemical heat storage, and seasonal heat storage, electricity storage including batteries, pumped hydroelectric storage, compressed air energy storage, and superconducting magnetic energy storage, and production and combustion of hydrogen as an energy storage option

Gamma radiation influences postharvest disease incidence of pineapple fruits

International Nuclear Information System (INIS)

Damayanti, M.; Sharma, G.J.; Kundu, S.C.

1992-01-01

The application of gamma radiation for improving the storage of pineapple fruits [Ananas comosus (L.) Merr. cv. Queen] has been studied in an attempt to reduce decay caused by fungal pathogens such as Ceratocystis paradoxa (Dade)-Moreau and Penicillium purpurogenum Stoll. Gamma radiation at 50, 75, 100, 150, and 250 Gy improved shelf life. The maximum tolerable dose was approximately 250 Gy. Fruits irradiated with up to 150 Gy and then stored at 25 to 28C maintained their texture better than did the controls. Radiation, particularly at doses 250 Gy, caused browning of the skin and softening of tissues. Browning increased with increasing radiation dose and storage duration. Excessively high doses promoted spoilage. Doses in the range of 50 to 250 Gy, in combination with storage at 11 to 13C, can be used to reduce postharvest losses in pineapple due to fungal diseases and senescence, thereby extending shelf life

Adeno-Associated Virus-Mediated Correction of a Canine Model of Glycogen Storage Disease Type Ia

Science.gov (United States)

Weinstein, David A.; Correia, Catherine E.; Conlon, Thomas; Specht, Andrew; Verstegen, John; Onclin-Verstegen, Karine; Campbell-Thompson, Martha; Dhaliwal, Gurmeet; Mirian, Layla; Cossette, Holly; Falk, Darin J.; Germain, Sean; Clement, Nathalie; Porvasnik, Stacy; Fiske, Laurie; Struck, Maggie; Ramirez, Harvey E.; Jordan, Juan; Andrutis, Karl; Chou, Janice Y.; Byrne, Barry J.

2010-01-01

Abstract Glycogen storage disease type Ia (GSDIa; von Gierke disease; MIM 232200) is caused by a deficiency in glucose-6-phosphatase-α. Patients with GSDIa are unable to maintain glucose homeostasis and suffer from severe hypoglycemia, hepatomegaly, hyperlipidemia, hyperuricemia, and lactic acidosis. The canine model of GSDIa is naturally occurring and recapitulates almost all aspects of the human form of disease. We investigated the potential of recombinant adeno-associated virus (rAAV) vector-based therapy to treat the canine model of GSDIa. After delivery of a therapeutic rAAV2/8 vector to a 1-day-old GSDIa dog, improvement was noted as early as 2 weeks posttreatment. Correction was transient, however, and by 2 months posttreatment the rAAV2/8-treated dog could no longer sustain normal blood glucose levels after 1 hr of fasting. The same animal was then dosed with a therapeutic rAAV2/1 vector delivered via the portal vein. Two months after rAAV2/1 dosing, both blood glucose and lactate levels were normal at 4 hr postfasting. With more prolonged fasting, the dog still maintained near-normal glucose concentrations, but lactate levels were elevated by 9 hr, indicating that partial correction was achieved. Dietary glucose supplementation was discontinued starting 1 month after rAAV2/1 delivery and the dog continues to thrive with minimal laboratory abnormalities at 23 months of age (18 months after rAAV2/1 treatment). These results demonstrate that delivery of rAAV vectors can mediate significant correction of the GSDIa phenotype and that gene transfer may be a promising alternative therapy for this disease and other genetic diseases of the liver. PMID:20163245

Results of ultrasonic testing evaluations on UF6 storage cylinders

International Nuclear Information System (INIS)

Lykins, M.L.

1997-02-01

The three site cylinder management program is responsible for the safe storage of the DOE owned UF 6 storage cylinders at PORTS, PGDP and at the K-25 site. To ensure the safe storage of the UF 6 in the cylinders, the structural integrity of the cylinders must be evaluated. This report represents the latest cylinder integrity investigation that utilized wall thickness evaluations to identify thinning due to atmospheric exposure

Phase change materials in non-volatile storage

OpenAIRE

Ielmini, Daniele; Lacaita, Andrea L.

2011-01-01

After revolutionizing the technology of optical data storage, phase change materials are being adopted in non-volatile semiconductor memories. Their success in electronic storage is mostly due to the unique properties of the amorphous state where carrier transport phenomena and thermally-induced phase change cooperate to enable high-speed, low-voltage operation and stable data retention possible within the same material. This paper reviews the key physical properties that make this phase so s...

Federal Tax Incentives for Energy Storage Systems

Energy Technology Data Exchange (ETDEWEB)

Anderson, Katherine H [National Renewable Energy Laboratory (NREL), Golden, CO (United States); Elgqvist, Emma M [National Renewable Energy Laboratory (NREL), Golden, CO (United States); Settle, Donald E [National Renewable Energy Laboratory (NREL), Golden, CO (United States)

2018-01-16

Investments in renewable energy are more attractive due to the contribution of two key federal tax incentives. The investment tax credit (ITC) and the Modified Accelerated Cost Recovery System (MACRS) depreciation deduction may apply to energy storage systems such as batteries depending on who owns the battery and how the battery is used. The guidelines in this fact sheet apply to energy storage systems installed at the same time as the renewable energy system.

Design and thermodynamic analysis of a hybrid energy storage system based on A-CAES (adiabatic compressed air energy storage) and FESS (flywheel energy storage system) for wind power application

International Nuclear Information System (INIS)

Zhao, Pan; Dai, Yiping; Wang, Jiangfeng

2014-01-01

Electricity generated from renewable wind sources is highly erratic due to the intermittent nature of wind. This uncertainty of wind power can lead to challenges regarding power system operation and dispatch. Energy storage system in conjunction with wind energy system can offset these effects, making the wind power controllable. Moreover, the power spectrum of wind power exhibits that the fluctuations of wind power include various components with different frequencies and amplitudes. Thus, the hybrid energy storage system is more suitable for smoothing out the wind power fluctuations effectively rather than the independent energy storage system. A hybrid energy storage system consisting of adiabatic compressed air energy storage (A-CAES) system and flywheel energy storage system (FESS) is proposed for wind energy application. The design of the proposed system is laid out firstly. The A-CAES system operates in variable cavern pressure, constant turbine inlet pressure mode, whereas the FESS is controlled by constant power strategy. Then, the off-design analysis of the proposed system is carried out. Meanwhile, a parametric analysis is also performed to investigate the effects of several parameters on the system performance, including the ambient conditions, inlet temperature of compressor, storage cavern temperature, maximum and minimum pressures of storage cavern. - Highlights: • A wind-hybrid energy storage system composed of A-CAES and FESS is proposed. • The design of the proposed hybrid energy storage system is laid out. • The off-design analysis of the proposed system is carried out. • A parametric analysis is conducted to examine the system performance

Evaluation of economics of spent fuel storage techniques

International Nuclear Information System (INIS)

Yamaji, Kenji; Nagano, Koji

1988-01-01

Various spent fuel storage techniques are evaluated in terms of required costs. The unit storage cost for each spent fuel storage scenario is calculated based on the total cost required for the scenario including capital expenditure, operation cost, maintenance cost and transport cost. Intermediate storage may be performed in relatively small facilities in the plant or in independent large-scale facilities installed away from the plant. Dry casks or water pools are assumed to be used in in-plant storage facilities while vaults may also be employed in independent facilities. Evaluation is made for these different cases. In in-plant facilities, dry cask storage is found to be more economical in all cases than water pool storage, especially when large-sized casks are employed. In independent facilities, on the other hand, the use of vaults is the most desirable because the required capital expenditure is the lowest due to the effect of scale economics. Dry cask storage is less expensive than water pool storage also in independent facilities. The annual discount rate has relatively small influence on the unit cost for storage. An estimated unit cost for storage in independent storage facilities is shown separately for facilities with a capacity of 1,000 tons, 3,000 tons or 5,000 tons. The report also outlines the economics of spent fuel storage in overseas facilities (Finland, Sweden and U.S.A.). (Nogami, K.)

Relationship between sickness presenteeism (WHO-HPQ) with depression and sickness absence due to mental disease in a cohort of Japanese workers.

Science.gov (United States)

Suzuki, Tomoko; Miyaki, Koichi; Song, Yixuan; Tsutsumi, Akizumi; Kawakami, Norito; Shimazu, Akihito; Takahashi, Masaya; Inoue, Akiomi; Kurioka, Sumiko

2015-07-15

Absence due to mental disease in the workplace has become a global public health problem. We aimed to evaluate the influence of presenteeism on depression and absence due to mental disease. A prospective study of 1831 Japanese employees from all areas of Japan was conducted. Presenteeism and depression were measured by the validated Japanese version of the World Health Organization Health and Work Performance Questionnaire (WHO-HPQ) and the K6 scale, respectively. Absence due to mental disease across a 2-year follow up was surveyed through medical certificates obtained for work absence. After adjusting for age and gender, participants with higher rates of sickness absolute and relative presenteeism (the lowest tertile of the scores) were significantly more likely to be absent due to mental disease (OR=4.40, 95% CI: 1.65-11.73, and OR=3.31, 95% CI: 1.50-7.27). Subsequently, higher rates of sickness absolute or relative presenteeism were significantly associated with higher rates of depression (K6≥13) one year later (OR=3.79, 95% CI: 2.48-5.81, and OR=2.89, 95% CI: 1.98-4.22). The number of females in the sample was relatively small. However, the rates of absence for females with and without mental illness did not significantly differ from those of men. More sickness presenteeism scores were found to be related to higher rates of depression and absence due to mental disease in this large-scale cohort of Japanese workers. Measurement of presenteeism could be used to evaluate the risk for depression and absenteeism. Furthermore, our findings suggest that intervention to improve presenteeism would be effective in preventing depression and absence due to mental illness. Copyright © 2015 Elsevier B.V. All rights reserved.

Wol man's disease: The King Faisal Specialist Hospital and Research Centre Experience

International Nuclear Information System (INIS)

Al-Essa, M.; Sakati, N.; Joshi, S.; Ozand, P.T.; Nounou, R.; Le Quesne, G.; Archibald, A.

1998-01-01

Wolman's disease is a rare autosomal recessive lysosomal storage disease. A recent review indicates that approximately 50 patients have reported in the world. Reports of patients from the Arabian Peninsula are rare due to lack of awareness among pediatricians. We retrospectively reviewed the clinical, radiological, biochemical and histopathological findings of four Saudi patients diagnosed with Wolman's disease at King Faisal Hospital and Research Centre. The diagnosis was confirmed by deficient acid lipase activity in the leukocytes and fibroblasts, which was measured using 4-methylumbelliferyl palmitate. All patients were failing to thrive with progressive heptasplenomegaly. Abdominal x-ray revealed calcifications which were confirmed on abdominal CT scan. Peripheral blood film showed foamy histiocytes. Liver biopsy in one patient showed marked steatosis and elliptical empty clefs predominantly in the Kupffer cells, indicating cholesterol storage in the reticulo-endothelial cells. The acid lipase activity was less than 6% in all patients. In all suspected cases of Wolman's disease, a plane abdominal x-ray should be obtained to check for the typical pattern of adrenal calcification characteristic of the disease, especially ant young infant with failure to thrive and progressive hepatosplenomegaly. (author)

Biodigester as an energy storage system

Energy Technology Data Exchange (ETDEWEB)

Borges Neto, M.R.; Lopes, L.C.N. [Federal Institute of Education, Science and Technology of Sertao Pernambucano (IFSertao-PE), Petrolina, PE (Brazil)], Emails: rangel@cefetpet.br; Pinheiro Neto, J.S.; Carvalho, P.C.M. [Federal University of Ceara (UFC), Fortaleza, CE (Brazil). Dept. of Electrical Engineering], Emails: neto@tbmtextil.com.br, carvalho@dee.ufc.br; Silveira, G.C.; Moreira, A.P.; Borges, T.S.H. [Federal Institute of Education, Science and Technology of Ceara (IFCE), Fortaleza, CE (Brazil)], Emails: gcsilveira@cefet-ce.br, apmoreira@ifce.edu.br, thatyanys@yahoo.com.br

2009-07-01

Electricity supply for rural and remote areas is becoming an increasing priority to developing countries. The high initial cost of renewable energy based unities usually needs an energy storage system; due its operational and even replacement cost contributes to a higher final cost. The choice of energy storage systems depends on the sort and size of adopted power supply. This paper has a main goal to introduce a renewable energy based storage system weakly explored in Brazil: biogas from anaerobic digestion. It also brings a review of the main energy storage systems applied to electrical energy generation. As reference an experiment with an adapted Indian digester of 5 m{sup 3} that produced nearly 2m{sup 3} of biogas daily. The obtained biogas met the consumption of at least 4 typical Brazilian low income households with installed load of 500 W each and was enough to replace the use of 420 Ah lead-acid batteries. (author)

Impact of storage environment on the efficacy of hermetic storage bags.

Science.gov (United States)

Lane, Brett; Woloshuk, Charles

2017-05-01

Small hermetic bags (50 and 100 kg capacities) used by smallholder farmers in several African countries have proven to be a low-cost solution for preventing storage losses due to insects. The complexity of postharvest practices and the need for ideal drying conditions, especially in the Sub-Sahara, has led to questions about the efficacy of the hermetic bags for controlling spoilage by fungi and the potential for mycotoxin accumulation. This study compared the effects of environmental temperature and relative humidity at two locations (Indiana and Arkansas) on dry maize (14% moisture content) in woven polypropylene bags and Purdue Improved Crop Storage (PICS) hermetic bags. Temperature and relative humidity data loggers placed in the middle of each bag provided profiles of environmental influences on stored grain at the two locations. The results indicated that the PICS bags prevented moisture penetration over the three-month storage period. In contrast, maize in the woven bags increased in moisture content. For both bag types, no evidence was obtained indicating the spread of Aspergillus flavus from colonized maize to adjacent non-colonized maize. However, other storage fungi did increase during storage. The number of infected kernels did not increase in the PICS bags, but the numbers in the woven bags increased significantly. The warmer environment in Arkansas resulted in significantly higher insect populations in the woven bags than in Indiana. Insects in the PICS bags remained low at both locations. This study demonstrates that the PICS hermetic bags are effective at blocking the effects of external humidity fluctuations as well as the spread of fungi to non-infected kernels.

Emissions impacts of wind and energy storage in a market environment.

Science.gov (United States)

Sioshansi, Ramteen

2011-12-15

This study examines the emissions impacts of adding wind and energy storage to a market-based electric power system. Using Texas as a case study, we demonstrate that market power can greatly effect the emissions benefits of wind, due to most of the coal-fired generation being owned by the two dominant firms. Wind tends to have less emissions benefits when generators exercise market power, since coal-fired generation is withheld from the market and wind displaces natural gas-fired generators. We also show that storage can have greater negative emissions impacts in the presence of wind than if only storage is added to the system. This is due to wind increasing on- and off-peak electricity price differences, which increases the amount that storage and coal-fired generation are used. We demonstrate that this effect is exacerbated by market power.

Failure Analysis of Storage Data Magnetic Systems

Directory of Open Access Journals (Sweden)

Ortiz–Prado A.

2010-10-01

Full Text Available This paper shows the conclusions about the corrosion mechanics in storage data magnetic systems (hard disk. It was done from the inspection of 198 units that were in service in nine different climatic regions characteristic for Mexico. The results allow to define trends about the failure forms and the factors that affect them. In turn, this study has analyzed the causes that led to mechanical failure and those due to deterioration by atmospheric corrosion. On the basis of the results obtained from the field sampling, demonstrates that the hard disk failure is fundamentally by mechanical effects. The deterioration by environmental effects were found in read-write heads, integrated circuits, printed circuit boards and in some of the electronic components of the controller card of the device, but not in magnetic storage surfaces. There fore, you can discard corrosion on the surface of the disk as the main kind of failure due to environmental deterioration. To avoid any inconvenience in the magnetic data storage system it is necessary to ensure sealing of the system.

Cooperative Optimal Operation of Wind-Storage Facilities

DEFF Research Database (Denmark)

Farashbashi-Astaneh, Seyed-Mostafa; Hu, Weihao; Chen, Zhe

2014-01-01

investment cost. We suggest benefitting the storage unit as a regulation service provider beside its normal operation for mitigating wind power imbalances. This idea comes from the fact that storage units have a fast ramping capability which is necessary to meet close to real-time regulation needs......As the penetration of wind power increases in power systems across the world, wind forecast errors become an emerging problem. Storage units are reliable tools to be used in cooperation with wind farms to mitigate imbalance penalties. Nevertheless they are not still economically viable due to huge....... In this paper a framework is proposed to formulate the optimal design of storage unit’s operation under different scenarios. These scenarios include whether the wind farm is actually generating more or less than the scheduled level submitted to day-ahead market. The results emphasize that the deployment...

Multifunctional Carbon Nanostructures for Advanced Energy Storage Applications

Directory of Open Access Journals (Sweden)

Yiran Wang

2015-05-01

Full Text Available Carbon nanostructures—including graphene, fullerenes, etc.—have found applications in a number of areas synergistically with a number of other materials. These multifunctional carbon nanostructures have recently attracted tremendous interest for energy storage applications due to their large aspect ratios, specific surface areas, and electrical conductivity. This succinct review aims to report on the recent advances in energy storage applications involving these multifunctional carbon nanostructures. The advanced design and testing of multifunctional carbon nanostructures for energy storage applications—specifically, electrochemical capacitors, lithium ion batteries, and fuel cells—are emphasized with comprehensive examples.

Pompe disease: A case report

Directory of Open Access Journals (Sweden)

Abdullah Çim

2015-12-01

Full Text Available Pompe disease is inherited in an autosomal recessive manner, and is usually observed in the children of asymptomatic carriers. Pompe disease, known as Glycogen Storage Disorder type II, is caused by pathogenic mutations in the gene encoding lysosomal acid alpha-glucosidase (GAA. There are three types of Pompe disease: classical infantile form, non-classical infantile form and late-onset Pompe disease. Age of onset and severity of the disease determine the type of Pompe disease. We aimed to identify a mutation in GAA gene in parents who were first cousins and their baby girl was passed away due to the Pompe disease. The baby girl had reduced acid alpha-glucosidase activity, but genetic analysis had not been performed. Mutation analysis of parents was performed using high-throughput DNA sequencing method. Heterozygous mutation of c.896 T>C in exon 5 was found in parents, and prenatal diagnosis was performed for their next pregnancy. In conclusion, c.896 T>C substitution in GAA gene may lead to the severe type of Pompe disease. Using a relatively fast and reliable molecular genetic analysis method to confirm the early diagnosis of the Pompe disease is important for the management of the disease.

Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies.

Science.gov (United States)

Aerts, Johannes M F G; Kallemeijn, Wouter W; Wegdam, Wouter; Joao Ferraz, Maria; van Breemen, Marielle J; Dekker, Nick; Kramer, Gertjan; Poorthuis, Ben J; Groener, Johanna E M; Cox-Brinkman, Josanne; Rombach, Saskia M; Hollak, Carla E M; Linthorst, Gabor E; Witte, Martin D; Gold, Henrik; van der Marel, Gijs A; Overkleeft, Herman S; Boot, Rolf G

2011-06-01

A biomarker is an analyte indicating the presence of a biological process linked to the clinical manifestations and outcome of a particular disease. In the case of lysosomal storage disorders (LSDs), primary and secondary accumulating metabolites or proteins specifically secreted by storage cells are good candidates for biomarkers. Clinical applications of biomarkers are found in improved diagnosis, monitoring disease progression, and assessing therapeutic correction. These are illustrated by reviewing the discovery and use of biomarkers for Gaucher disease and Fabry disease. In addition, recently developed chemical tools allowing specific visualization of enzymatically active lysosomal glucocerebrosidase are described. Such probes, coined inhibodies, offer entirely new possibilities for more sophisticated molecular diagnosis, enzyme replacement therapy monitoring, and fundamental research.

Thermal performance and heat transport in aquifer thermal energy storage

NARCIS (Netherlands)

Sommer, W.T.; Doornenbal, P.J.; Drijver, B.C.; Gaans, van P.F.M.; Leusbrock, I.; Grotenhuis, J.T.C.; Rijnaarts, H.H.M.

2014-01-01

Aquifer thermal energy storage (ATES) is used for seasonal storage of large quantities of thermal energy. Due to the increasing demand for sustainable energy, the number of ATES systems has increased rapidly, which has raised questions on the effect of ATES systems on their surroundings as well as

Changes in guava (Psidium guajava L. var. Paluma nectar volatile compounds concentration due to thermal processing and storage

Directory of Open Access Journals (Sweden)

Maria Ivaneide Coutinho Correa

2010-12-01

Full Text Available Guava nectars were formulated for approximately 10, 12, or 14 ºBrix, with 40% guava pulp. Sodium benzoate, 500 mg.kg-1 was used as preservative. The Brix value was adjusted with saturated sucrose syrup. The guava nectar was pasteurized (85 ºC/42 seconds in tubular heat exchanger and then hot filled in 500 mL white glass bottles. The products were stored either at room temperature (25 ± 5 ºC or refrigerated (5 ± 2 ºC under fluorescent light exposure and analyzed on the day after processing (time zero and also 40, 80, and 120 days of storage. Eight compounds were identified and quantified by Gas Chromatography (GC -Mass Spectrometry (MS: hexanal, (E-hex-2-enal, 1-hexenol, (Z-hex-3-enol, (Z-hex-3-enyl acetate, phenyl-3-propyl acetate, cinnamyl acetate, and acetic acid. There was no significant effect of thermal treatment on the volatile compound concentrations, except for a significant decrease (p = 0.0001 in hexanal and (Z-hex-3-enyl acetate (p = 0.0029. As for the storage time, there was a much greater decrease in the esters contents, such as (Z-hex-3-enyl and phenyl-3-propyl acetates. Cinnamyl acetate had the greatest decrease over storage time. Refrigeration was better than room temperature for guava nectar volatile compounds stability over storage time, mainly for esters compounds, which are important for the product aroma and flavor

Plant storage proteins – the main nourisching products – from biosynthesis to cellular storage depots

Directory of Open Access Journals (Sweden)

Agnieszka Chmielnicka

2017-06-01

Full Text Available Storage proteins of legumes are one of the main components of the human and animal diet. The substances collected in their seeds have the pro-health values, supporting the prevention of many civilization diseases. However, there are still many uncertainties about the mechanisms leading to the production of nutritious seeds. It is also difficult to identify which of their constituents and in what final form are responsible for the observed protective effects in vivo. In this work, on the background of different types of storage proteins, these deposited mainly in legumes were in the focus of interest. They were characterized on the example of pea (Pisum sativum proteins. Mechanisms associated with their biosynthesis and transport to specific cellular compartments was presented. Ways of their post-translational processing, segregation and storage in the specific vacuoles were also discussed. Therefore, the paper presents the state-of-the-art knowledge concerning the processes making the accumulated protein deposits ready to use by plants, animals and humans.

Thermal performance and heat transport in aquifer thermal energy storage

Science.gov (United States)

Sommer, W. T.; Doornenbal, P. J.; Drijver, B. C.; van Gaans, P. F. M.; Leusbrock, I.; Grotenhuis, J. T. C.; Rijnaarts, H. H. M.

2014-01-01

Aquifer thermal energy storage (ATES) is used for seasonal storage of large quantities of thermal energy. Due to the increasing demand for sustainable energy, the number of ATES systems has increased rapidly, which has raised questions on the effect of ATES systems on their surroundings as well as their thermal performance. Furthermore, the increasing density of systems generates concern regarding thermal interference between the wells of one system and between neighboring systems. An assessment is made of (1) the thermal storage performance, and (2) the heat transport around the wells of an existing ATES system in the Netherlands. Reconstruction of flow rates and injection and extraction temperatures from hourly logs of operational data from 2005 to 2012 show that the average thermal recovery is 82 % for cold storage and 68 % for heat storage. Subsurface heat transport is monitored using distributed temperature sensing. Although the measurements reveal unequal distribution of flow rate over different parts of the well screen and preferential flow due to aquifer heterogeneity, sufficient well spacing has avoided thermal interference. However, oversizing of well spacing may limit the number of systems that can be realized in an area and lower the potential of ATES.

Safety considerations on LPG storage tanks

International Nuclear Information System (INIS)

Paff, R.

1993-01-01

The safety of liquefied petroleum gas (LPG) storage tanks, in refineries, petrochemicals plants, or distribution storage, is an important concern. Some serious accidents in recent years, have highlighted the need for a good safety policy for such equipment. Accidents in LPG storage are mainly due to losses of containment of the LPG. Formation of a cloud can lead to a ''Unconfined Vapor Cloud Explosion'' (UVCE). Liquid leakage can lead to pool fires in the retention area. In some circumstances the heat input of the tank, combined with the loss of mechanical resistance of the steel under high temperature, can lead to a BLEVE ''Boiling Liquid Expanding Vapor Explosion''. It is obvious that such equipment needs a proper design, maintenance and operating policy. The details to be considered are set out. (4 figures). (Author)

3'-UTR SNP rs2229611 in G6PC1 affects mRNA stability, expression and Glycogen Storage Disease type-Ia risk.

Science.gov (United States)

Karthi, Sellamuthu; Rajeshwari, Mohan; Francis, Amirtharaj; Saravanan, Matheshwaran; Varalakshmi, Perumal; Houlden, Henry; Thangaraj, Kumarasamy; Ashokkumar, Balasubramaniem

2017-08-01

The frequency of rs2229611, previously reported in Chinese, Caucasians, Japanese and Hispanics, was investigated for the first time in Indian ethnicity. We analyzed its role in the progression of Glycogen Storage Disease type-Ia (GSD-Ia) and breast cancer. Genotype data on rs2229611 revealed that the risk of GSD-Ia was higher (P=0.0195) with CC compared to TT/TC genotypes, whereas no such correlation was observed with breast cancer cases. We observed a strong linkage disequilibrium (LD) among rs2229611 and other disease causing G6PC1 variants (|D'|=1, r 2 =1). Functional validation performed in HepG2 cells using luciferase constructs showed significant (PIa patients. The implication of this result is significant in predicting disease onset, progression and response to disease modifying treatments in patients with GSD-Ia. Copyright © 2017 Elsevier B.V. All rights reserved.

Tay-Sachs Disease

Science.gov (United States)

... better understanding of how neurological deficits arise in lipid storage diseases and on the development of new treatments targeting disease mechanisms. Specific research on the gangliodisoses including expanding the use of ...

Energy Storage.

Science.gov (United States)

Eaton, William W.

Described are technological considerations affecting storage of energy, particularly electrical energy. The background and present status of energy storage by batteries, water storage, compressed air storage, flywheels, magnetic storage, hydrogen storage, and thermal storage are discussed followed by a review of development trends. Included are…

Multidimensional materials and device architectures for future hybrid energy storage

Science.gov (United States)

Lukatskaya, Maria R.; Dunn, Bruce; Gogotsi, Yury

2016-09-01

Electrical energy storage plays a vital role in daily life due to our dependence on numerous portable electronic devices. Moreover, with the continued miniaturization of electronics, integration of wireless devices into our homes and clothes and the widely anticipated `Internet of Things', there are intensive efforts to develop miniature yet powerful electrical energy storage devices. This review addresses the cutting edge of electrical energy storage technology, outlining approaches to overcome current limitations and providing future research directions towards the next generation of electrical energy storage devices whose characteristics represent a true hybridization of batteries and electrochemical capacitors.

Etanercept (Enbrel® alternative storage at ambient temperature

Directory of Open Access Journals (Sweden)

Shannon E

2017-07-01

Full Text Available Edel Shannon,1 Joanne Daffy,2 Heather Jones,3 Andrea Paulson,4 Steven M Vicik5 1Global Chemistry, Manufacturing, and Controls Regulatory, 2Contract Operations Quality Assurance, Pfizer Ireland Pharmaceuticals, Clondalkin, Dublin, Ireland; 3Medical Affairs, Pfizer, Collegeville, PA, USA; 4Pharmaceutical Research and Development, 5Global Supply Product Portfolio Management, Pfizer Biotech, Andover, MA, USA Background: Biologic disease-modifying antirheumatic drugs, including tumor necrosis factor inhibitors such as etanercept (Enbrel®, have improved outcomes for patients with rheumatic and other inflammatory diseases, with sustained remission being the optimal goal for patients with rheumatoid arthritis. Flexible and convenient treatment options, compatible with modern lifestyle, are important in helping patients maintain treatment and manage their disease. Etanercept drug product (DP is available in lyophilized powder (Lyo for solution injection, prefilled syringe, and prefilled pen presentations and is typically stored under refrigerated conditions. We aimed to generate a comprehensive analytical data package from stability testing of key quality attributes, consistent with regulatory requirements, to determine whether the product profile of etanercept is maintained at ambient temperature. Methods: Test methods assessing key attributes of purity, quality, potency, and safety were performed over time, following storage of etanercept DP presentations under a range of conditions. Results: Results and statistical analysis from stability testing (based on size exclusion high-performance liquid chromatography, hydrophobic interaction chromatography, and sodium dodecyl sulfate-polyacrylamide gel electrophoresis Coomassie across all etanercept presentations (10 and 25 mg/vial Lyo DP; 25 and 50 mg prefilled syringe DP; 50 mg prefilled pen DP showed key stability-indicating parameters were within acceptable limits through the alternative storage

Studies on heat storage, 9

International Nuclear Information System (INIS)

Taoda, Hiroshi; Hayakawa, Kiyoshi; Kawase, Kaoru; Kosaka, Mineo

1985-01-01

To estimate the extent of thermal oxidative aging of the crosslinked and surface coated polyethylene pellets used as a latent heat thermal storage material, their deterioration was investigated by applying the heating-cooling cycle which simulated the daily insolation over 6 months (8-hour holding at 150 deg C as the highest temperature in a day followed by 5-hour holding at 30 deg C as the lowest one). The degradation, e.g., the lowering of heat of crystallization and in crystallization temperature, is thought to be caused by both the decrease in molecular weight of polyethylene due to thermal oxidative decomposition and the crosslinking between produced radicals. With the increase in the degree of crosslinking and branching in a molecular chain which has low bond dissociation energy, thermal deterioration of polyethylene proceeds more rapidly. Polyethylene pellets can endure long periods of practical heat cycling as a thermal storage material when they are treated with radical scavengers under proper control of their crosslinking degrees. The repeating heat storage experiments by using the developed polyethylene thermal storage material were performed and very promising results were obtained. (author)

Lactated Ringer-based storage solutions are equally well suited for the storage of fresh osteochondral allografts as cell culture medium-based storage solutions.

Science.gov (United States)

Harb, Afif; von Horn, Alexander; Gocalek, Kornelia; Schäck, Luisa Marilena; Clausen, Jan; Krettek, Christian; Noack, Sandra; Neunaber, Claudia

2017-07-01

Due to the rising interest in Europe to treat large cartilage defects with osteochondrale allografts, research aims to find a suitable solution for long-term storage of osteochondral allografts. This is further encouraged by the fact that legal restrictions currently limit the use of the ingredients from animal or human sources that are being used in other regions of the world (e.g. in the USA). Therefore, the aim of this study was A) to analyze if a Lactated Ringer (LR) based solution is as efficient as a Dulbecco modified Eagle's minimal essential medium (DMEM) in maintaining chondrocyte viability and B) at which storage temperature (4°C vs. 37°C) chondrocyte survival of the osteochondral allograft is optimally sustained. 300 cartilage grafts were collected from knees of ten one year-old Black Head German Sheep. The grafts were stored in four different storage solutions (one of them DMEM-based, the other three based on Lactated Ringer Solution), at two different temperatures (4 and 37°C) for 14 and 56days. At both points in time, chondrocyte survival as well as death rate, Glycosaminoglycan (GAG) content, and Hydroxyproline (HP) concentration were measured and compared between the grafts stored in the different solutions and at the different temperatures. Independent of the storage solutions tested, chondrocyte survival rates were higher when stored at 4°C compared to storage at 37°C both after short-term (14days) and long-term storage (56days). At no point in time did the DMEM-based solution show a superior chondrocyte survival compared to lactated Ringer based solution. GAG and HP content were comparable across all time points, temperatures and solutions. LR based solutions that contain only substances that are approved in Germany may be just as efficient for storing grafts as the USA DMEM-based solution gold standard. Moreover, in the present experiment storage of osteochondral allografts at 4°C was superior to storage at 37°C. Copyright © 2017

Underground Storage Tanks - Storage Tank Locations

Data.gov (United States)

NSGIC Education | GIS Inventory — A Storage Tank Location is a DEP primary facility type, and its sole sub-facility is the storage tank itself. Storage tanks are aboveground or underground, and are...

Renal sonographic findings of type I glycogen storage disease in infancy and early childhood

Energy Technology Data Exchange (ETDEWEB)

Lin, Chun-Chen; Lin, Shuan-Pei [Mackay Memorial Hospital, Department of Pediatrics, Taipei (Taiwan); Tsai, Jeng-Daw; Lee, Hung-Chang [Mackay Memorial Hospital, Department of Pediatrics, Taipei (Taiwan); Taipei Medical University, Department of Pediatrics, Taipei (Taiwan)

2005-08-01

Type I glycogen storage disease (GSD-I) is an inherited disorder affecting glycogenolysis and gluconeogenesis. The characteristic manifestations are hepatomegaly, hypoglycemia, hyperlacticacidemia, hyperuricemia, and hyperlipidemia. Renal disease is regarded as a long-term complication and is reported mainly in older patients. We report the renal manifestations and renal ultrasonographic findings of GSD-I in infancy and early childhood in order to assess the role of renal sonography in the diagnosis of GSD-I. We retrospectively reviewed our hospital's database for patients with GSD-I from January 1993 to September 2004. The records of five patients were reviewed for this study. These five patients were diagnosed when they were younger than 3 years old. Data extracted from the charts included the initial extrarenal and renal manifestations, laboratory data, and imaging studies. We analyzed the indications for, and results of, renal sonography. In addition to the clinical presentations and laboratory abnormalities, all five children had nephromegaly and increased echogenicity on ultrasonography on their first visit, although only a minor degree of tubular dysfunction was noted clinically. Three of these five patients had nephrocalcinosis or renal stones or both. Hyperechoic large kidneys, nephrocalcinosis, and renal stones are common in GSD-I. They can be present in early infancy. Abnormalities on renal sonography might suggest GSD-I in a patient with suspected inborn errors of metabolism. (orig.)

Genetic Disease Foundation

Science.gov (United States)

... has used its fundraising efforts to help further research programs at Mount Sinai. Spotlight: Gaucher Gaucher Disease is the most common of the lipid storage diseases. Learn about its symptoms, how it ...

Microbial Internal Storage Alters the Carbon Transformation in Dynamic Anaerobic Fermentation.

Science.gov (United States)

Ni, Bing-Jie; Batstone, Damien; Zhao, Bai-Hang; Yu, Han-Qing

2015-08-04

Microbial internal storage processes have been demonstrated to occur and play an important role in activated sludge systems under both aerobic and anoxic conditions when operating under dynamic conditions. High-rate anaerobic reactors are often operated at a high volumetric organic loading and a relatively dynamic profile, with large amounts of fermentable substrates. These dynamic operating conditions and high catabolic energy availability might also facilitate the formation of internal storage polymers by anaerobic microorganisms. However, so far information about storage under anaerobic conditions (e.g., anaerobic fermentation) as well as its consideration in anaerobic process modeling (e.g., IWA Anaerobic Digestion Model No. 1, ADM1) is still sparse. In this work, the accumulation of storage polymers during anaerobic fermentation was evaluated by batch experiments using anaerobic methanogenic sludge and based on mass balance analysis of carbon transformation. A new mathematical model was developed to describe microbial storage in anaerobic systems. The model was calibrated and validated by using independent data sets from two different anaerobic systems, with significant storage observed, and effectively simulated in both systems. The inclusion of the new anaerobic storage processes in the developed model allows for more successful simulation of transients due to lower accumulation of volatile fatty acids (correction for the overestimation of volatile fatty acids), which mitigates pH fluctuations. Current models such as the ADM1 cannot effectively simulate these dynamics due to a lack of anaerobic storage mechanisms.

Fascinating Magnetic Energy Storage Nanomaterials: A Brief Review.

Science.gov (United States)

Sreenivasulu, Kummari V; Srikanth, Vadali V S S

2017-07-10

In this brief review, the importance of nanotechnology in developing novel magnetic energy storage materials is discussed. The discussion covers recent patents on permanent magnetic materials and especially covers processing of permanent magnets (rare-earth and rare-earth free magnets), importance of rare-earth permanent magnets and necessity of rare-earth free permanent magnets. Magnetic energy storage materials are those magnetic materials which exhibit very high energy product (BH)max (where B is the magnetic induction in Gauss (G) whereas H is the applied magnetic field in Oersted (Oe)). (BH)max is the direct measure of the ability of a magnetic material to store energy. In this context, processing of magnetic energy storage composite materials constituted by soft and hard magnetic materials played a predominant role in achieving high (BH)max values due to the exchange coupling phenomenon between the soft and hard magnetic phases within the composite. Magnetic energy storage composites are normally composed of rare-earth magnetic materials as well as rare-earth free magnetic materials. Nanotechnology's influence on the enhancement of energy product due to the exchange coupling phenomenon is of great prominence and therefore discussed in this review. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

Evaluation of central nervous system in patients with glycogen storage disease type 1a.

Science.gov (United States)

Aydemir, Yusuf; Gürakan, Figen; Saltık Temizel, İnci Nur; Demir, Hülya; Oğuz, Kader Karlı; Yalnızoğlu, Dilek; Topçu, Meral; Özen, Hasan; Yüce, Aysel

2016-01-01

We aimed to evaluate structure and functions of central nervous system (CNS) in children with glycogen storage disease (GSD) type 1a. Neurological examination, psychometric tests, electroencephalography (EEG), magnetic resonance imaging (MRI), visual evoked potentials (VEP) and brainstem auditory evoked potentials (BAEP) were performed. The results were compared between patients with good and poor metabolic control and healthy children. Twenty-three patients with GSD type 1a were studied. Twelve patients were in poor metabolic control group and 11 patients in good metabolic control group. Five patients had intellectual disability, 10 had EEG abnormalities, seven had abnormal VEP and two had abnormal BAEP results. MRI was abnormal in five patients. There was significant correlation between the number of hypoglycemic attacks and MRI abnormalities. Central nervous system may be affected in GSD type 1a even in patients with normal neurologic examination. Accumulation of abnormal results in patients with poor metabolic control supports the importance of metabolic control in GSD type 1a.

Experimental study of hydrogen isotopes storage on titanium bed

International Nuclear Information System (INIS)

Vasut, Felicia; Zamfirache, Marius; Bornea, Anisia; Pearsica, Claudia; Bidica, Nicolae

2002-01-01

As known, the Nuclear Power Plant Cernavoda equipped with a Canadian reactor, of CANDU type, is the most powerful tritium source from Europe. On long term, due to a 6·10 16 Bq/year, Cernavoda area will be contaminated due to the increasing tritium quantity. Also, the continuous contamination of heavy water from the reactor, induces a reduction of moderation's capacity. Therefore, one considers that it is improperly to use heavy water if its activity level is higher than 40 Ci/kg in the moderator and 2 Ci/kg in the cooling fluid. For these reasons, we have developed a detritiation technology, based on catalytic isotopic exchange and cryogenic distillation. Tritium will be removed from the tritiated heavy water, so it appears the necessity of storage of tritium in a special vessel that can provide a high level of protection and safety of environment and personal. There several metals were tested as storage beds for hydrogen isotopes. One of the reference materials used for storage of hydrogen isotopes is uranium, a material with a great storage capacity, but unfortunately it is a radioactive metal and also can react with the impurities from the stored gas. Other metals and alloys as ZrCo, Ti, FeTi are also adequate as storage beds at normal temperature. The paper presents studies about the reaction between hydrogen and titanium used as storage bed for the hydrogen isotopes resulted after the detritiation of tritiated heavy water. The experiments that were carried out used protium and mixture of deuterium and protium at different storage parameters as process gas. (authors)

Incidence and outcome of patients starting renal replacement therapy for end-stage renal disease due to multiple myeloma or light-chain deposit disease: an ERA-EDTA Registry study

DEFF Research Database (Denmark)

Tsakiris, D.J.; Stel, V.S.; Finne, P.

2010-01-01

Background. Information on demographics and survival of patients starting renal replacement therapy (RRT) for end-stage renal disease (ESRD) due to multiple myeloma (MM) or light-chain deposit disease (LCDD) is scarce. The aim of this study was to describe the incidence, characteristics, causes...... causes (non-MM) was observed overtime. Patient survival on RRT was examined, unadjusted and adjusted for age and gender. Results. Of the 159 637 patients on RRT, 2453 (1.54%) had MM or LCDD. The incidence of RRT for ESRD due to MM or LCDD, adjusted for age and gender, increased from 0.70 pmp in 1986...

PWR Core II blanket fuel disposition recommendation of storage option study

International Nuclear Information System (INIS)

Dana, C.M.

1995-01-01

After review of the options available for current storage of T Plant Fuel the recommended option is wet storage without the use of chillers. A test has been completed that verifies the maximum temperature reached is below the industrial standard for storage of spent fuel. This option will be the least costly and still maintain the fuel in a safe environment. The options that were evaluated included dry storage with and without chillers, and wet storage with and without chillers. Due to the low decay heat of the Shippingport Core II Blanket fuel assemblies the fuel pool temperature will not exceed 100 deg. F

Abdominal ultrasonography in inheredited diseases of carbohydrate metabolism

International Nuclear Information System (INIS)

Pozzato, Carlo; Curti, Alessandra; Cornalba, Gianpaolo; Radaelli, Giovanni; Fiori, Laura; Rossi, Samantha; Riva, Enrica

2005-01-01

Purpose: To determine the usefulness of abdominal sonography in inherited diseases of carbohydrate metabolism. Materials and methods: Thirty patients (age range, 4 months to 27 years) with glycogen storage diseases, galactosemia, disorders of fructose metabolism were studied with sonography. Echogenicity of the liver, sonographic dimensions of liver, kidneys and spleen were evaluated. Plasma blood parameters (ALT, AST, total cholesterol, triglycerides) were determined. Results: Liver was enlarged in 21/22 patients (95.4%) with glycogen storage diseases, in both subjects with disorders of fructose metabolism, and in 2/6 patients (33.3%) with galactosemia. Hepatic echogenicity was increased in 20/22 patients (90.9%) with glycogen storage diseases, and in the subject with hereditary fructose intolerance. Patients with galactosemia did not show increased liver echogenicity. Both kidney were enlarged in 8/17 patients (47.0%) with glycogen storage disease type I. Subjects with increased hepatic echogenicity exhibited higher plasma concentrations of any blood parameter than the others with normal echogenicity (p [it

In Patients with an α-Galactosidase A Variant, Small Nerve Fibre Assessment Cannot Confirm a Diagnosis of Fabry Disease

NARCIS (Netherlands)

van der Tol, Linda; Verhamme, Camiel; van Schaik, Ivo N.; van der Kooi, Anneke J.; Hollak, Carla E. M.; Biegstraaten, Marieke

2016-01-01

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by an α-galactosidase A enzyme deficiency due to pathogenic variants in the α-galactosidase A gene (GLA). An increasing number of individuals with a GLA variant, but without characteristic FD features, are identified. A definite

Heat transfer modelling in a spent-fuel dry storage system

International Nuclear Information System (INIS)

Ritz, J.B.; Le Bonhomme, S.

2001-01-01

The purpose of this paper is to present a numerical modelling of heat transfers in a Spent-Fuel horizontal dry storage. The horizontal dry storage is an interesting issue to momentary store spent fuel containers before the final storage. From a thermal point of view, the cooling of spent fuel container by natural convection is a suitable and inexpensive process but it necessitates to well define the dimensions of the concept due to the difficulty to control the thermal environment. (author)

Estimating Global Burden of Disease due to congenital anomaly: an analysis of European data

Science.gov (United States)

Boyle, Breidge; Addor, Marie-Claude; Arriola, Larraitz; Barisic, Ingeborg; Bianchi, Fabrizio; Csáky-Szunyogh, Melinda; de Walle, Hermien E K; Dias, Carlos Matias; Draper, Elizabeth; Gatt, Miriam; Garne, Ester; Haeusler, Martin; Källén, Karin; Latos-Bielenska, Anna; McDonnell, Bob; Mullaney, Carmel; Nelen, Vera; Neville, Amanda J; O’Mahony, Mary; Queisser-Wahrendorf, Annette; Randrianaivo, Hanitra; Rankin, Judith; Rissmann, Anke; Ritvanen, Annukka; Rounding, Catherine; Tucker, David; Verellen-Dumoulin, Christine; Wellesley, Diana; Wreyford, Ben; Zymak-Zakutnia, Natalia; Dolk, Helen

2018-01-01

Objective To validate the estimates of Global Burden of Disease (GBD) due to congenital anomaly for Europe by comparing infant mortality data collected by EUROCAT registries with the WHO Mortality Database, and by assessing the significance of stillbirths and terminations of pregnancy for fetal anomaly (TOPFA) in the interpretation of infant mortality statistics. Design, setting and outcome measures EUROCAT is a network of congenital anomaly registries collecting data on live births, fetal deaths from 20 weeks’ gestation and TOPFA. Data from 29 registries in 19 countries were analysed for 2005–2009, and infant mortality (deaths of live births at age congenital anomaly. In 11 EUROCAT countries, average infant mortality with congenital anomaly was 1.1 per 1000 births, with higher rates where TOPFA is illegal (Malta 3.0, Ireland 2.1). The rate of stillbirths with congenital anomaly was 0.6 per 1000. The average TOPFA prevalence was 4.6 per 1000, nearly three times more prevalent than stillbirths and infant deaths combined. TOPFA also impacted on the prevalence of postneonatal survivors with non-lethal congenital anomaly. Conclusions By excluding TOPFA and stillbirths from GBD years of life lost (YLL) estimates, GBD underestimates the burden of disease due to congenital anomaly, and thus declining YLL over time may obscure lack of progress in primary, secondary and tertiary prevention. PMID:28667189

Exascale Storage Systems the SIRIUS Way

Science.gov (United States)

Klasky, S. A.; Abbasi, H.; Ainsworth, M.; Choi, J.; Curry, M.; Kurc, T.; Liu, Q.; Lofstead, J.; Maltzahn, C.; Parashar, M.; Podhorszki, N.; Suchyta, E.; Wang, F.; Wolf, M.; Chang, C. S.; Churchill, M.; Ethier, S.

2016-10-01

As the exascale computing age emerges, data related issues are becoming critical factors that determine how and where we do computing. Popular approaches used by traditional I/O solution and storage libraries become increasingly bottlenecked due to their assumptions about data movement, re-organization, and storage. While, new technologies, such as “burst buffers”, can help address some of the short-term performance issues, it is essential that we reexamine the underlying storage and I/O infrastructure to effectively support requirements and challenges at exascale and beyond. In this paper we present a new approach to the exascale Storage System and I/O (SSIO), which is based on allowing users to inject application knowledge into the system and leverage this knowledge to better manage, store, and access large data volumes so as to minimize the time to scientific insights. Central to our approach is the distinction between the data, metadata, and the knowledge contained therein, transferred from the user to the system by describing “utility” of data as it ages.

Storage and balancing synergies in a fully or highly renewable pan-European power system

DEFF Research Database (Denmark)

Rasmussen, Morten Grud; Bruun Andresen, Gorm; Greiner, Martin

2012-01-01

the balancing energy needs for a given storage size, the interplay between storage and balancing is quantified, providing a hard upper limit on their synergy. An efficient but relatively small storage reduces balancing energy needs significantly due to its influence on intra-day mismatches. Furthermore, we show...

FPGA-based prototype storage system with phase change memory

Science.gov (United States)

Li, Gezi; Chen, Xiaogang; Chen, Bomy; Li, Shunfen; Zhou, Mi; Han, Wenbing; Song, Zhitang

2016-10-01

With the ever-increasing amount of data being stored via social media, mobile telephony base stations, and network devices etc. the database systems face severe bandwidth bottlenecks when moving vast amounts of data from storage to the processing nodes. At the same time, Storage Class Memory (SCM) technologies such as Phase Change Memory (PCM) with unique features like fast read access, high density, non-volatility, byte-addressability, positive response to increasing temperature, superior scalability, and zero standby leakage have changed the landscape of modern computing and storage systems. In such a scenario, we present a storage system called FLEET which can off-load partial or whole SQL queries to the storage engine from CPU. FLEET uses an FPGA rather than conventional CPUs to implement the off-load engine due to its highly parallel nature. We have implemented an initial prototype of FLEET with PCM-based storage. The results demonstrate that significant performance and CPU utilization gains can be achieved by pushing selected query processing components inside in PCM-based storage.

Metalized T graphene: A reversible hydrogen storage material at room temperature

International Nuclear Information System (INIS)

Ye, Xiao-Juan; Zhong, Wei; Du, You-Wei; Liu, Chun-Sheng; Zeng, Zhi

2014-01-01

Lithium (Li)-decorated graphene is a promising hydrogen storage medium due to its high capacity. However, homogeneous mono-layer coating graphene with lithium atoms is metastable and the lithium atoms would cluster on the surface, resulting in the poor reversibility. Using van der Waals-corrected density functional theory, we demonstrated that lithium atoms can be homogeneously dispersed on T graphene due to a nonuniform charge distribution in T graphene and strong hybridizations between the C-2p and Li-2p orbitals. Thus, Li atoms are not likely to form clusters, indicating a good reversible hydrogen storage. Both the polarization mechanism and the orbital hybridizations contribute to the adsorption of hydrogen molecules (storage capacity of 7.7 wt. %) with an optimal adsorption energy of 0.19 eV/H 2 . The adsorption/desorption of H 2 at ambient temperature and pressure is also discussed. Our results can serve as a guide in the design of new hydrogen storage materials based on non-hexagonal graphenes.

Measurement of the time of storage of ultracold neutrons in a magnetic trap

International Nuclear Information System (INIS)

Abov, Y.G.; Borovlev, S.P.; Vasil'ev, V.V.; Vladimirskii, V.V.; Mospan, E.N.

1983-01-01

The storage time of ultracold neutrons in an axial magnetic trap with a simple singly connected confinement region is measured. It is shown that the storage of the neutrons is due just to the magnetic field. The storage time achieved is tau = 303 +- 37 sec. In a working cycle 3.6 neutrons are accumulated

Effec Of Low Protein Diet On Chronic Renal Failure Due To Autosomal Dominant Polycystic Kidney Disease

Directory of Open Access Journals (Sweden)

Terukuni Ideura

2012-06-01

Full Text Available There are few reports about therapeutic effects of low protein diet on the progression of chronic renal failure due to autosomal dominant polycystic kidney disease (ADPKD, although the disease is common.The annual incidence rate for end-stage renal disease caused by ADPKD is around 6 per million.In this retrospective study in one center, ten chronic renal failure patients due to ADPKD with creatinine clearnce of 17.0±3.3 mL/min /1.73 m2 and serum creatinine (Cr level of 4.4±0.7 mg/dL were studied for 40 months after the introduction of severe low protein diet (SLPD (0.48±0.03 g/kgBW/day without supplementation of essential amino acids or keto-analogues. Dietary protein intake was estimated by urea appearance rate from 24hr urine sample according to Mitch-Maroni's formula. The results clearly showed that ▵1/Cr/month(×10−3 was significantly suppressed from 5.8±0.9 to 2.0±0.6 following the introduction of SLPD (p<0.02. Furthermore, BUN/Cr ratio decreased from 10.4±0.02 to 7.3±0.02 (p<0.01. Mean blood pressure (mmHg remained unchanged; 92±3 vs 89±3 (ns, and urinary protein excretion (g/day did not change; 0.6±0.2 vs 0.6±0.1 (ns. There were no significant differences between body mass index, serum albumin, transferrin and hemoglobin levels as the indices of nutritional state before and after the introduction of SLPD.In conclusion, SLPD was effective in suppressing the progression of further decline in renal function due to ADPKD under nutritionally safety condition in this cohort.

Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene.

Science.gov (United States)

Sandberg, Michael A; Rosner, Bernard; Weigel-DiFranco, Carol; McGee, Terri L; Dryja, Thaddeus P; Berson, Eliot L

2008-12-01

To estimate the mean rates of ocular function loss in patients with autosomal recessive retinitis pigmentosa due to USH2A mutations. In 125 patients with USH2A mutations, longitudinal regression was used to estimate mean rates of change in Snellen visual acuity, Goldmann visual field area (V4e white test light), and 30-Hz (cone) full-field electroretinogram amplitude. These rates were compared with those of previously studied cohorts with dominant retinitis pigmentosa due to RHO mutations and with X-linked retinitis pigmentosa due to RPGR mutations. Rates of change in patients with the Cys759Phe mutation, the USH2A mutation associated with nonsyndromic disease, were compared with rates of change in patients with the Glu767fs mutation, the most common USH2A mutation associated with Usher syndrome type II (i.e., retinitis pigmentosa and hearing loss). Mean annual exponential rates of decline for the USH2A patients were 2.6% for visual acuity, 7.0% for visual field area, and 13.2% for electroretinogram amplitude. The rate of acuity loss fell between the corresponding rates for the RHO and RPGR patients, whereas the rates for field and ERG amplitude loss were faster than those for the RHO and RPGR patients. No significant differences were found for patients with the Cys759Phe mutation versus patients with the Glu767fs mutation. On average, USH2A patients lose visual acuity faster than RHO patients and slower than RPGR patients. USH2A patients lose visual field and cone electroretinogram amplitude faster than patients with RHO or RPGR mutations. Patients with a nonsyndromic USH2A mutation have the same retinal disease course as patients with syndromic USH2A disease.

Gaucher Disease: The Metabolic Defect, Pathophysiology, Phenotypes And Natural History

Science.gov (United States)

Baris, Hagit N.; Cohen, Ian J.; Mistry, Pramod K.

2015-01-01

Gaucher disease (GD), a prototype lysosomal storage disorder, results from inherited deficiency of lysosomal glucocerebrosidase due to biallelic mutations in GBA. The result is widespread accumulation of macrophages engorged with predominantly lysosomal glucocerebroside. A complex multisystem phenotype arises involving the liver, spleen, bone marrow and occasionally the lungs in type 1 Gaucher disease; in neuronopathic fulminant type 2 and chronic type 3 disease there is in addition progressive neurodegenerative disease. Manifestations of Gaucher disease type 1 (GD1) include hepatosplenomegaly, cytopenia, a complex pattern of bone involvement with avascular osteonecrosis (AVN), osteoporosis, fractures and lytic lesions. Enzyme replacement therapy became the standard of care in 1991, and this has transformed the natural history of GD1. This article reviews the clinical phenotypes of GD, diagnosis, pathophysiology and its natural history. A subsequent chapter discusses the treatment options. PMID:25345088

Genetics Home Reference: Fabry disease

Science.gov (United States)

... Stroke: Fabry's Disease Information Page National Institute of Neurological Disorders and Stroke: Lipid Storage Diseases Fact Sheet Educational Resources (8 links) Children Living With Inherited Metabolic Diseases (CLIMB) (UK): Fabry ...

PROCESS CONTROL STORAGE SMOKELESS TOBACCO (SNUS

Directory of Open Access Journals (Sweden)

T. A. Don

2015-01-01

Full Text Available An important aim during smokeless tobacco product (snus storage is keeping its quantitative and qualitative properties. Another significant factor is its biological safety due to its oral way of consumption. The main factors affecting quality during storage are: temperature, relative humidity, air composition, ventilation rate, surrounding products and package. Snus consumption is growing, but till present it was slightly spread in Russia and as a result little studied, thus studying process of its storage is an actual question. The aims of the research were: studying terms and methods of storage that provide constant product’s quality. Samples with different composition were taken for carrying research. Quality evaluation was carried according to standard for tobacco branch methods and to new methods developed in the laboratory of technologies for manufacturing tobacco products. Products were stored at lowered and room temperatures. It is discovered that snus with herbs added can be stored at room temperature and humidity not more than three months. Snus with coffee added can be stored not more than four months without changing its taste. Adding honey to this product slightly decreases its score by sensory evaluation, but remains it possible for consumption. Sensory testing score after storage at lowered temperature has remained unchanged. Optimal terms of storage were found. For room temperature they are: temperature 17-25 °C, relative air humidity 65 – 75 %, for lowered temperature – 5 °C and relative air humidity 50 -60 %. It was discovered that composition of snus and environmental parameters affect its storage duration.

Neutrino Signals in Electron-Capture Storage-Ring Experiments

Directory of Open Access Journals (Sweden)

Avraham Gal

2016-06-01

Full Text Available Neutrino signals in electron-capture decays of hydrogen-like parent ions P in storage-ring experiments at GSI are reconsidered, with special emphasis placed on the storage-ring quasi-circular motion of the daughter ions D in two-body decays P → D + ν e . It is argued that, to the extent that daughter ions are detected, these detection rates might exhibit modulations with periods of order seconds, similar to those reported in the GSI storage-ring experiments for two-body decay rates. New dedicated experiments in storage rings, or using traps, could explore these modulations.

Gas storage materials, including hydrogen storage materials

Science.gov (United States)

Mohtadi, Rana F; Wicks, George G; Heung, Leung K; Nakamura, Kenji

2013-02-19

A material for the storage and release of gases comprises a plurality of hollow elements, each hollow element comprising a porous wall enclosing an interior cavity, the interior cavity including structures of a solid-state storage material. In particular examples, the storage material is a hydrogen storage material such as a solid state hydride. An improved method for forming such materials includes the solution diffusion of a storage material solution through a porous wall of a hollow element into an interior cavity.

Causes of mortality due to rheumatic diseases in Jerez de los Caballeros (Badajoz) during the 19th century.

Science.gov (United States)

Peral Pacheco, Diego; Suárez-Guzmán, Francisco Javier

2016-01-01

A total of 26,203 of the deaths in Jerez de los Caballeros (Badajoz) during the 19th century were collected and grouped according to the Bertillon's Classification, in order to study the causes of death from rheumatic diseases. An analysis was made using the Death Registers, those located in the Parish Archives, and files of the Municipal Archives. There were a total of 31 deaths due to rheumatic diseases, with the 65-74 years age group being most frequent. The lack of records may be due to the inaccuracy of the diagnoses. September was the month of increased mortality. Copyright © 2014 Elsevier España, S.L.U. y Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

Effect of Storage Temperature on Beauveria bassiana (Bals. Vuill. Viability on Several Carriers

Directory of Open Access Journals (Sweden)

Sri Sukamto

2006-05-01

Full Text Available One of the entomopatogenous fungus types commonly observed and showed potency as myco-insectiside is Beauveria bassiana(Bals. Vuill.In order to support effectiveness and patogenous activity of B. bassiana, it is necessary to add a carrying agent that protects its spores from ultra violet ray. This study aims to investigate the effect of storage temperature on viability of B. Bassianaspores on the carrier material. The observation was carried out in the Laboratory of Plant Diseases, Indonesian Coffee and Cocoa Research Institute. The research was arranged in completely randomized design by three factors. The first factor was carrier (C, that consists of C1 = rice flour, C2 = maize flour and C3 = tapioca flour. The second factor was dosage (D, that consists of D1 = 1 g B. bassiana+ 1 g carrier; D2 = 1 g B. bassiana+ 5 g carrier and D3 = 1 g B. bassiana+ 10 g carrier. The third factor was temperature of the storage (T,that consists of T1 = 5oC; T2 = 23oC and T3 = 29oC. Viability of B. Bassiana spores was examined by observing development of 100 blastopores randomly and determined under light microscope with 400 times magnification. Observation was conducted in two replicates after the spores of B. bassiana were kept in the storage for 2, 4, 8 and 16 weeks. The result showed that by adding 1 g tapioca flour and temperature of storage of 5oC was potentiall in keeping viability of B. bassianaspores at least for 2 months. It was due to that tapioca flour gave better effect than rice and maize flours in keeping the storage and appropriate low temperature. Viability of B. bassianaspores decreased with increasing carrier dosage, temperature and duration of the storage. Whereas, storage at 5oC was found to be a better condition in keeping viability of dry pure B. bassianaspores longer than conditions of 23o and 29oC. Key word:Beauveria bassiana, temperature, viability,carrier.

Anton's syndrome due to cerebrovascular disease: a case report

Directory of Open Access Journals (Sweden)

Maddula Mohana

2009-09-01

Full Text Available Abstract Introduction Anton's syndrome describes the condition in which patients deny their blindness despite objective evidence of visual loss, and moreover confabulate to support their stance. It is a rare extension of cortical blindness in which, in addition to the injury to the occipital cortex, other cortical centres are also affected, with patients typically behaving as if they were sighted. Case presentation We present a case report of an 83-year-old white woman with cortical blindness as a result of bilateral occipital lobe infarcts. Despite her obvious blindness, illustrated by her walking into objects, the patient expressed denial of visual loss and demonstrated confabulation in her accounts of her surroundings, consistent with a diagnosis of Anton's syndrome. Conclusions A suspicion of cortical blindness and Anton's syndrome should be considered in patients with atypical visual loss and evidence of occipital lobe injury. Cerebrovascular disease is the most common cause of Anton's syndrome, as in our patient. However, any condition that may result in cortical blindness can potentially lead to Anton's syndrome. Recovery of visual function will depend on the underlying aetiology, with cases due to occipital lobe infarction after cerebrovascular events being less likely to result in complete recovery. Management in these circumstances should accordingly focus on secondary prevention and rehabilitation.

Pulmonary functions and sleep-related breathing disorders in lipid storage disease.

Science.gov (United States)

Bingöl, Züleyha; Tekce, Hacer Durmuş; Sağcan, Gülseren; Serdaroğlu, Piraye; Kıyan, Esen

2018-03-01

Pulmonary function abnormalities and sleep-related breathing disorders (SRBD) are frequent in subjects with several neuromuscular diseases but there is no data about lipid storage diseases (LSD). Therefore, we aimed to evaluate pulmonary functions and SRBD in adults with LSD. Pulmonary functions (forced expiratory volume (FEV 1 ), forced vital capacity (FVC), supine FVC, upright-supine FVC% change, maximal inspiratory pressure (MIP), maximal expiratory pressure (MEP), peak cough flow (PCF)), arterial blood gases, and polysomnographic data of all subjects were evaluated. Twenty-five subjects with LSD were evaluated [17 males, 8 females; age 34.9 ± 15 years; BMI 26.5 ± 3.4 kg/m 2 ]. MIP was - 72.2 ± 32.7 cmH 2 O ( 45 mmHg). REM sleep had decreased in all subjects (10.2% ± 6.1). Obstructive sleep apnea (OSA) was found in 80% of the subjects (n = 20; 9 mild, 9 moderate, 2 severe). For subjects with OSA, apnea-hypopnea index (AHI) was 20.8 ± 15.9/h, oxygen desaturation index (ODI) was 11.9 ± 15.4/h, AHI REM was 30.6 ± 19.7/h, AHI NREM was 19.7 ± 16.6/h, ODI REM was 27.2 ± 26.1/h, and ODI NREM was 11.4 ± 15/h. Five subjects (20%) diagnosed as REM-related OSA. Nocturnal mean SpO 2 was 94.9% ± 1.7, lowest SpO 2 was 73.3% ± 13.9, and time spent with SpO 2 < 90% was 2.4% ± 7.2. In subjects with LSD, pulmonary function impairment, daytime hypercapnia and hypoxemia, and OSA, especially REM-related OSA, are frequent. Therefore, pulmonary functions and polysomnography should be performed routinely.

Dorfman-Chanarin syndrome: A rare neutral lipid storage disease

OpenAIRE

Mitra Souvik; Samanta Moumita; Sarkar Mihir; Chatterjee Sukanta

2010-01-01

Dorfman-Chanarin syndrome is a rare neutral lipid storage disorder characterized by ichthyosis, lipid vacuolations in peripheral leucocytes, and multisystem involvement. It is an autosomal recessive disorder caused by mutations in the CGI-58 gene. A total of 42 cases have been reported worldwide till February 2009 out of which 4 have been previously reported from India. We report a case of a 20-month-old male with congenital ichthyosis, organomegaly, and bilateral cryptorchidism. Examination ...

Twin pregnancy complicated by severe hemolytic disease of the fetus and newborn due to anti-g and anti-C.

Science.gov (United States)

Trevett, Thomas N; Moise, Kenneth J

2005-11-01

Hemolytic disease of the fetus and newborn caused by anti-G antibodies is rare, and in most previously reported cases, leads to a mild anemia. The RhG antigen is usually found in association with both RhD and RhC. We report a case of a twin pregnancy affected by both anti-G and anti-C alloantibodies leading to severe hemolytic disease of the fetus and newborn requiring multiple intrauterine transfusions and prolonged postnatal therapy. A patient with a prolonged history of previously affected pregnancies due to anti-D and anti-C was subsequently found to be affected with anti-G instead. She required aggressive therapy during her pregnancy, initially with intravenous immune globulin and plasmapheresis until umbilical blood sampling and intrauterine transfusions were feasible. Although hemolytic disease of the fetus and newborn due to anti-G antibodies is rare and usually mild, these pregnancies should be followed up closely and in utero therapy should be offered if necessary.

Clinical utility of neuronal cells directly converted from fibroblasts of patients for neuropsychiatric disorders: studies of lysosomal storage diseases and channelopathy

Science.gov (United States)

Kano, Shin-ichi; Yuan, Ming; Cardarelli, Ross A.; Maegawa, Gustavo; Higurashi, Norimichi; Gaval-Cruz, Meriem; Wilson, Ashley M.; Tristan, Carlos; Kondo, Mari A.; Chen, Yian; Koga, Minori; Obie, Cassandra; Ishizuka, Koko; Seshadri, Saurav; Srivastava, Rupali; Kato, Takahiro A.; Horiuchi, Yasue; Sedlak, Thomas W.; Lee, Yohan; Rapoport, Judith L.; Hirose, Shinichi; Okano, Hideyuki; Valle, David; O'Donnell, Patricio; Sawa, Akira; Kai, Mihoko

2015-01-01

Methodologies for generating functional neuronal cells directly from human fibroblasts [induced neuronal (iN) cells] have been recently developed, but the research so far has only focused on technical refinements or recapitulation of known pathological phenotypes. A critical question is whether this novel technology will contribute to elucidation of novel disease mechanisms or evaluation of therapeutic strategies. Here we have addressed this question by studying Tay-Sachs disease, a representative lysosomal storage disease, and Dravet syndrome, a form of severe myoclonic epilepsy in infancy, using human iN cells with feature of immature postmitotic glutamatergic neuronal cells. In Tay-Sachs disease, we have successfully characterized canonical neuronal pathology, massive accumulation of GM2 ganglioside, and demonstrated the suitability of this novel cell culture for future drug screening. In Dravet syndrome, we have identified a novel functional phenotype that was not suggested by studies of classical mouse models and human autopsied brains. Taken together, the present study demonstrates that human iN cells are useful for translational neuroscience research to explore novel disease mechanisms and evaluate therapeutic compounds. In the future, research using human iN cells with well-characterized genomic landscape can be integrated into multidisciplinary patient-oriented research on neuropsychiatric disorders to address novel disease mechanisms and evaluate therapeutic strategies. PMID:25732146

Helium effects on tritium storage materials

International Nuclear Information System (INIS)

Moysan, I.; Contreras, S.; Demoment, J.

2008-01-01

For ten years French Tritium laboratories have been using metal hydride storage beds with LaNi 4 Mn for process gas (HDT mixture) absorption, desorption and for both short and long term storage. This material has been chosen because of its low equilibrium pressure and of its ability to retain decay helium 3 in its lattice. Aging effects on the thermodynamic behavior of LaNi 4 Mn have been investigated. Aging, due to formation of helium 3 in the lattice, decreases the desorption isotherm plateau pressure and shifts the α phase to the higher stoichiometries. Life time of the two kinds of tritium (and isotopes) storage vessels managed in the laboratory depends on these aging changes. The Tritium Long Term Storage (namely STLT) and the hydride storage vessel (namely FSH 400) are based on LaNi 4 Mn even though they are not used for the same applications. STLT contains LaNi 4 Mn in an aluminum vessel and is designed for long term pure tritium storage. The FSH 400 is composed of LaNi 4 Mn included within a stainless steel container. This design is aimed at storing low tritium content mixtures (less than 3% of tritium) and for supplying processes with HDT gas. Life time of the STLT can reach 12 years. Life time of the FSH 400 varies from 1.2 years to more than 25 years depending on the application. (authors)

Helium effects on tritium storage materials

Energy Technology Data Exchange (ETDEWEB)

Moysan, I.; Contreras, S.; Demoment, J. [CEA Valduc, Service HDT, 21 - Is-sur-Tille (France)

2008-07-15

For ten years French Tritium laboratories have been using metal hydride storage beds with LaNi{sub 4}Mn for process gas (HDT mixture) absorption, desorption and for both short and long term storage. This material has been chosen because of its low equilibrium pressure and of its ability to retain decay helium 3 in its lattice. Aging effects on the thermodynamic behavior of LaNi{sub 4}Mn have been investigated. Aging, due to formation of helium 3 in the lattice, decreases the desorption isotherm plateau pressure and shifts the {alpha} phase to the higher stoichiometries. Life time of the two kinds of tritium (and isotopes) storage vessels managed in the laboratory depends on these aging changes. The Tritium Long Term Storage (namely STLT) and the hydride storage vessel (namely FSH 400) are based on LaNi{sub 4}Mn even though they are not used for the same applications. STLT contains LaNi{sub 4}Mn in an aluminum vessel and is designed for long term pure tritium storage. The FSH 400 is composed of LaNi{sub 4}Mn included within a stainless steel container. This design is aimed at storing low tritium content mixtures (less than 3% of tritium) and for supplying processes with HDT gas. Life time of the STLT can reach 12 years. Life time of the FSH 400 varies from 1.2 years to more than 25 years depending on the application. (authors)

The next generation mass storage devices - Physical principles and current status

Science.gov (United States)

Wang, L.; Gai, S.

2014-04-01

The amount of digital data today has been increasing at a phenomenal rate due to the widespread digitalisation service in almost every industry. The need to store such ever-increasing data aggressively triggers the requirement to augment the storage capacity of the conventional storage technologies. Unfortunately, the physical limitations that conventional forms face have severely handicapped their potential to meet the storage need from both consumer and industry point of view. The focus has therefore been switched into the development of the innovative data storage technologies such as scanning probe memory, nanocrystal memory, carbon nanotube memory, DNA memory, and organic memory. In this paper, we review the physical principles of these emerging storage technologies and their superiorities as the next generation data storage device, as well as their respective technical challenges on further enhancing the storage capacity. We also compare these novel technologies with the mainstream data storage means according to the technology roadmap on areal density.

Analysis of multi cloud storage applications for resource constrained mobile devices

Directory of Open Access Journals (Sweden)

Rajeev Kumar Bedi

2016-09-01

Full Text Available Cloud storage, which can be a surrogate for all physical hardware storage devices, is a term which gives a reflection of an enormous advancement in engineering (Hung et al., 2012. However, there are many issues that need to be handled when accessing cloud storage on resource constrained mobile devices due to inherent limitations of mobile devices as limited storage capacity, processing power and battery backup (Yeo et al., 2014. There are many multi cloud storage applications available, which handle issues faced by single cloud storage applications. In this paper, we are providing analysis of different multi cloud storage applications developed for resource constrained mobile devices to check their performance on the basis of parameters as battery consumption, CPU usage, data usage and time consumed by using mobile phone device Sony Xperia ZL (smart phone on WiFi network. Lastly, conclusion and open research challenges in these multi cloud storage apps are discussed.

PC-Cluster based Storage System Architecture for Cloud Storage

OpenAIRE

Yee, Tin Tin; Naing, Thinn Thu

2011-01-01

Design and architecture of cloud storage system plays a vital role in cloud computing infrastructure in order to improve the storage capacity as well as cost effectiveness. Usually cloud storage system provides users to efficient storage space with elasticity feature. One of the challenges of cloud storage system is difficult to balance the providing huge elastic capacity of storage and investment of expensive cost for it. In order to solve this issue in the cloud storage infrastructure, low ...

Plasma biomarkers of decreased vesicular storage distinguish Parkinson disease with orthostatic hypotension from the parkinsonian form of multiple system atrophy.

Science.gov (United States)

Goldstein, David S; Kopin, Irwin J; Sharabi, Yehonatan; Holmes, Courtney

2015-02-01

Parkinson disease with orthostatic hypotension (PD + OH) and the parkinsonian form of multiple system atrophy (MSA-P) can be difficult to distinguish clinically. Recent studies indicate that PD entails a vesicular storage defect in catecholaminergic neurons. Although cardiac sympathetic neuroimaging by (18)F-dopamine positron emission tomography can identify decreased vesicular storage, this testing is not generally available. We assessed whether plasma biomarkers of a vesicular storage defect can separate PD + OH from MSA-P. We conceptualized that after F-dopamine injection, augmented production of F-dihydroxyphenylacetic acid (F-DOPAC) indicates decreased vesicular storage, and we therefore predicted that arterial plasma F-DOPAC would be elevated in PD + OH but not in MSA-P. We measured arterial plasma F-DOPAC after (18)F-dopamine administration (infused i.v. over 3 min) in patients with PD + OH (N = 12) or MSA-P (N = 21) and in healthy control subjects (N = 26). Peak F-DOPAC:dihydroxyphenylglycol (DHPG) was also calculated to adjust for effects of denervation on F-DOPAC production. Plasma F-DOPAC accumulated rapidly after initiation of (18)F-dopamine infusion. Peak F-DOPAC (5-10 min) in PD + OH averaged three times that in MSA-P (P 300 nCi-kg/cc-mCi, in contrast with 7 of 12 PD + OH patients (χ(2) = 16.6, P < 0.0001). DHPG was lower in PD + OH (3.83 ± 0.36 nmol/L) than in MSA-P (5.20 ± 0.29 nmol/L, P = 0.007). All MSA-P patients had peak F-DOPAC:DHPG < 60, in contrast with 9 of 12 PD + OH patients (χ(2) = 17.5, P < 0.0001). Adjustment of peak F-DOPAC for DHPG increased test sensitivity from 58 to 81% at similar high specificity. After F-dopamine injection, plasma F-DOPAC and F-DOPAC:DHPG distinguish PD + OH from MSA-P.

Power balance provision through co-ordinated control of modern storage heater load

OpenAIRE

Qazi, Hassan Wajahat; Flynn, Damian

2013-01-01

Operational inflexibility due to wind variability at high penetration levels can be mitigated through flexible demand. However, most flexible loads entail a subsequent short-term higher energy payback and aggregated load coincidence. Storage heaters operating on a dual tariff, that typically charge during a fixed time window, can be considered as distributed thermal storage without an associated energy payback period. Modern storage heaters have improved heat retention, the capability to esti...

Estimating Global Burden of Disease due to congenital anomaly: an analysis of European data.

Science.gov (United States)

Boyle, Breidge; Addor, Marie-Claude; Arriola, Larraitz; Barisic, Ingeborg; Bianchi, Fabrizio; Csáky-Szunyogh, Melinda; de Walle, Hermien E K; Dias, Carlos Matias; Draper, Elizabeth; Gatt, Miriam; Garne, Ester; Haeusler, Martin; Källén, Karin; Latos-Bielenska, Anna; McDonnell, Bob; Mullaney, Carmel; Nelen, Vera; Neville, Amanda J; O'Mahony, Mary; Queisser-Wahrendorf, Annette; Randrianaivo, Hanitra; Rankin, Judith; Rissmann, Anke; Ritvanen, Annukka; Rounding, Catherine; Tucker, David; Verellen-Dumoulin, Christine; Wellesley, Diana; Wreyford, Ben; Zymak-Zakutnia, Natalia; Dolk, Helen

2018-01-01

To validate the estimates of Global Burden of Disease (GBD) due to congenital anomaly for Europe by comparing infant mortality data collected by EUROCAT registries with the WHO Mortality Database, and by assessing the significance of stillbirths and terminations of pregnancy for fetal anomaly (TOPFA) in the interpretation of infant mortality statistics. EUROCAT is a network of congenital anomaly registries collecting data on live births, fetal deaths from 20 weeks' gestation and TOPFA. Data from 29 registries in 19 countries were analysed for 2005-2009, and infant mortality (deaths of live births at age congenital anomaly. In 11 EUROCAT countries, average infant mortality with congenital anomaly was 1.1 per 1000 births, with higher rates where TOPFA is illegal (Malta 3.0, Ireland 2.1). The rate of stillbirths with congenital anomaly was 0.6 per 1000. The average TOPFA prevalence was 4.6 per 1000, nearly three times more prevalent than stillbirths and infant deaths combined. TOPFA also impacted on the prevalence of postneonatal survivors with non-lethal congenital anomaly. By excluding TOPFA and stillbirths from GBD years of life lost (YLL) estimates, GBD underestimates the burden of disease due to congenital anomaly, and thus declining YLL over time may obscure lack of progress in primary, secondary and tertiary prevention. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Improvement of Cardiomyopathy After High-Fat Diet in Two Siblings with Glycogen Storage Disease Type III.

Science.gov (United States)

Brambilla, Alessandra; Mannarino, Savina; Pretese, Roberta; Gasperini, Serena; Galimberti, Cinzia; Parini, Rossella

2014-01-01

Glycogenosis type III (GSD III) is an autosomal recessive disorder due to amylo-1,6-glucosidase deficiency. This disease causes limit dextrin storage in affected tissues: liver, skeletal muscles, and heart in GSD IIIa and only liver in GSD IIIb. Cardiomyopathy is quite frequent in GSD IIIa with variable severity and progression of manifestations. It is not clear if diet manipulation may interfere with cardiomyopathy's progression. Recent case reports showed improvement of cardiomyopathy following a ketogenic diet.Two siblings (girl and boy), 7- and 5-year-old, both affected with GSD IIIa, developed severe and rapidly worsening left ventricular hypertrophy in the first years of life, while treated with frequent diurnal and nocturnal hyperproteic meals followed by orally administered uncooked cornstarch. Subsequently they were treated with high-fat (60%) and high-protein (25%), low-carbohydrate (15%) diet. After 12 months exertion dyspnea disappeared in the girl and biochemical blood tests, cardiac enzymes, and congestive heart failure markers improved in both (CK 3439→324, 1304→581 U/L; NT-proBNP 2084→206, 782→135 pg/mL, respectively); ultrasound assessment in both patients showed a relevant reduction of the thickness of interventricular septum (30→16, 16→11 mm, respectively) and left ventricle posterior wall (18→7, 13→8 mm, respectively) and an improvement of the outflow obstruction. A diet rich in fats as well as proteins and poor in carbohydrates could be a beneficial therapeutic choice for GSD III with cardiomyopathy. Future research is needed to confirm the beneficial effect of this treatment and to design treatment strategies with the aim to provide alternative source of energy and prevent glycogen accumulation.

SOLID-STATE STORAGE DEVICE WITH PROGRAMMABLE PHYSICAL STORAGE ACCESS

DEFF Research Database (Denmark)

2017-01-01

a storage device action request, and the storage device evaluating a first rule of the one or more rules by determining if the received request fulfills request conditions comprised in the first rule, and in the affirmative the storage device performing request actions comprised in the first rule......Embodiments of the present invention includes a method of operating a solid-state storage device, comprising a storage device controller in the storage device receiving a set of one or more rules, each rule comprising (i) one or more request conditions to be evaluated for a storage device action...... request received from a host computer, and (ii) one or more request actions to be performed on a physical address space of a non-volatile storage unit in the solid-state storage device in case the one or more request conditions are fulfilled; the method further comprises: the storage device receiving...

Autophagy, lipophagy and lysosomal lipid storage disorders.

Science.gov (United States)

Ward, Carl; Martinez-Lopez, Nuria; Otten, Elsje G; Carroll, Bernadette; Maetzel, Dorothea; Singh, Rajat; Sarkar, Sovan; Korolchuk, Viktor I

2016-04-01

Autophagy is a catabolic process with an essential function in the maintenance of cellular and tissue homeostasis. It is primarily recognised for its role in the degradation of dysfunctional proteins and unwanted organelles, however in recent years the range of autophagy substrates has also been extended to lipids. Degradation of lipids via autophagy is termed lipophagy. The ability of autophagy to contribute to the maintenance of lipo-homeostasis becomes particularly relevant in the context of genetic lysosomal storage disorders where perturbations of autophagic flux have been suggested to contribute to the disease aetiology. Here we review recent discoveries of the molecular mechanisms mediating lipid turnover by the autophagy pathways. We further focus on the relevance of autophagy, and specifically lipophagy, to the disease mechanisms. Moreover, autophagy is also discussed as a potential therapeutic target in several key lysosomal storage disorders. Copyright © 2016 The Authors. Published by Elsevier B.V. All rights reserved.

Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy.

Science.gov (United States)

Akiyama, Masashi; Sakai, Kaori; Ogawa, Masaya; McMillan, James R; Sawamura, Daisuke; Shimizu, Hiroshi

2007-12-01

Recently, mutations in PNPLA2 encoding adipose triglyceride lipase (ATGL) were reported to underlie a neutral lipid storage disease (NLSD) subgroup characterized by mild myopathy and the absence of ichthyosis. In the present study a novel homozygous PNPLA2 mutation c.475_478dupCTCC (p.Gln160ProfsX19) in the patatin domain, the ATGL active site, was detected in a woman with NLSD and severe myopathy. The present results suggest that a premature truncation mutation in the patatin domain causes NLSD with severe myopathy.

Alterations in membrane trafficking and pathophysiological implications in lysosomal storage disorders.

Science.gov (United States)

Kuech, Eva-Maria; Brogden, Graham; Naim, Hassan Y

2016-11-01

Lysosomal storage disorders are a heterogeneous group of more than 50 distinct inborn metabolic diseases affecting about 1 in 5000 to 7000 live births. The diseases often result from mutations followed by functional deficiencies of enzymes or transporters within the acidic environment of the lysosome, which mediate the degradation of a wide subset of substrates, including glycosphingolipids, glycosaminoglycans, cholesterol, glycogen, oligosaccharides, peptides and glycoproteins, or the export of the respective degradation products from the lysosomes. The progressive accumulation of uncleaved substrates occurs in multiple organs and finally causes a broad spectrum of different pathologies including visceral, neurological, skeletal and hematologic manifestations. Besides deficient lysosomal enzymes and transporters other defects may lead to lysosomal storage disorders, including activator defects, membrane defects or defects in modifier proteins. In this review we concentrate on four different lysosomal storage disorders: Niemann-Pick type C, Fabry disease, Gaucher disease and Pompe disease. While the last three are caused by defective lysosomal hydrolases, Niemann-Pick type C is caused by the inability to export LDL-derived cholesterol out of the lysosome. We want to emphasise potential implications of membrane trafficking defects on the pathology of these diseases, as many mutations interfere with correct lysosomal protein trafficking and alter cellular lipid homeostasis. Current therapeutic strategies are summarised, including substrate reduction therapy as well as pharmacological chaperone therapy which directly aim to improve folding and lysosomal transport of misfolded mutant proteins. Copyright © 2016 Elsevier B.V. and Société Française de Biochimie et Biologie Moléculaire (SFBBM). All rights reserved.

Storage is absolutely necessary to balance supply and demand

International Nuclear Information System (INIS)

Anon.

2009-01-01

Before liberalization, gas storage was built to balance supply and demand (on a seasonal basis), as well as for broader security of supply concerns. With liberalization, companies started to use storage in a more flexible way as they were no longer obliged to prioritize security of supply. The decline in swing production in the North Sea should have triggered an increase in storage capacity. However, in the UK, investment in storage was neglected until too late. The major points of interest in continental Europe are as follows: due to geological constraints, Latvia is the only Baltic state to have underground storage; storage capacity represents 49% of annual Austria demand; Germany has the biggest European storage facility; in Belgium, Bulgaria, Hungary, Poland and Portugal, just one company in each country has all the storage capacity; in Romania, Romgaz has 92% of storage capacity; in the Czech Republic, RWE owns 75% of the storage; in Slovakia, GDF SUEZ and E.ON have most of the capacity; and storage in Ukraine represents a huge opportunity with a capacity of 34 bcm (billion cubic meters). In oil, strategic stocks are a reality and have been used but in gas, strategic stocks do not exist except 5.1 bcm in Italy, 1 bcm in Spain and 1.2 bcm are being built in Hungary. Some possible EU changes could have an impact on the entire European gas market. Just outside EU-27, Ukraine has a form of strategic storage which represents 10% of its suppliers' annual supplies

Cyclic high temperature heat storage using borehole heat exchangers

Science.gov (United States)

Boockmeyer, Anke; Delfs, Jens-Olaf; Bauer, Sebastian

2016-04-01

The transition of the German energy supply towards mainly renewable energy sources like wind or solar power, termed "Energiewende", makes energy storage a requirement in order to compensate their fluctuating production and to ensure a reliable energy and power supply. One option is to store heat in the subsurface using borehole heat exchangers (BHEs). Efficiency of thermal storage is increasing with increasing temperatures, as heat at high temperatures is more easily injected and extracted than at temperatures at ambient levels. This work aims at quantifying achievable storage capacities, storage cycle times, injection and extraction rates as well as thermal and hydraulic effects induced in the subsurface for a BHE storage site in the shallow subsurface. To achieve these aims, simulation of these highly dynamic storage sites is performed. A detailed, high-resolution numerical simulation model was developed, that accounts for all BHE components in geometrical detail and incorporates the governing processes. This model was verified using high quality experimental data and is shown to achieve accurate simulation results with excellent fit to the available experimental data, but also leads to large computational times due to the large numerical meshes required for discretizing the highly transient effects. An approximate numerical model for each type of BHE (single U, double U and coaxial) that reduces the number of elements and the simulation time significantly was therefore developed for use in larger scale simulations. The approximate numerical model still includes all BHE components and represents the temporal and spatial temperature distribution with a deviation of less than 2% from the fully discretized model. Simulation times are reduced by a factor of ~10 for single U-tube BHEs, ~20 for double U-tube BHEs and ~150 for coaxial BHEs. This model is then used to investigate achievable storage capacity, injection and extraction rates as well as induced effects for

Hydrogen storage in complex hydrides

International Nuclear Information System (INIS)

Lupu, D.; Biris, A. R.; Misan, I.

2005-01-01

Full text: Hydrogen storage is a key enabling technology for the advancement of hydrogen and fuel cell power technologies in mobile and stationary applications. A relevant role of the fuel cell powered vehicles on the market of the transportation systems will be achieved only if the research and development of on-board vehicular hydrogen storage are able to allow a driving range of at least 500 km. The on-board hydrogen storage systems are more challenging due to the space, weight and cost limitations. This range of autonomy between refueling requires materials able to store at least 6.5% weight hydrogen, available at moderate pressures, at the working temperature of the fuel cells and with acceptable cycling stability. The intensive research on the hydrogen storage in alloys and intermetallic of the LaNi 5 , FeTi or Laves phase type compounds, which started more than three decades ago did not resulted in materials of more than about 3% H storage capacities. The 7.5% H content of the Mg hydride is still of attracting interest but though the absorption has been achieved at lower temperatures by ball milling magnesium with various amounts of nickel, the desorption can not be attained at 1 bar H 2 below 280 deg. C and the kinetics of the process is too slow. In the last decade, the attention is focused on another class of compounds, the complex hydrides of aluminum with alkali metals (alanates), due to their high hydrogen content. It was found that doping with Ti-based catalysts improve the hydrogenation/dehydrogenation conditions of NaAlH 4 . Later on, it was shown that ball milling with solid state catalysts greatly improve the hydrogen desorption kinetics of NaAlH 4 , and this also helps to the rehydriding process. The hydrogen desorption from NaAlH 4 occurs in three steps, it shows a reversible storage capacity of 5.5% H and this led to further research work for a better knowledge of its application relating properties. In this work, ball milling experiments on Na

Injury due to thorotrast

International Nuclear Information System (INIS)

Mori, Takesaburo

1976-01-01

A synthetic study was performed on some of those to whom Thorotrast had been injected, in Japan. In the epidemiological study of 147 war woundeds to whom Thorotrast had been injected, it was noted that the Thorotrast injection increased the mortality rate and the incidences of malignant hepatic tumor, liver cirrhosis, and hematological diseases. Clinical study of 44 of them showed that the Thorotrast injection resulted in liver and hematopoietic hypofunctions. Analysis of the dissection of the injected area in 118 cases showed malignant hepatic tumor in 63.5%, liver cirrhosis in 14.4% and hematological diseases in 10.2%. The total of the three types of disease was 88.1%. Histological classification showed that of the malignant hepatic tumors due to Thorotrast, hepatobiliary cancer and hemangioendothelioma of the liver were frequent. By the comparison of the absorbed dose in the liver of the malignant hepatic tumors due to Thorotrast with that of the cancers developed in animal experiments, it was noted that the carcinogenic dose was a mean of 2,000 - 3,000 rad by accumulated dose. It was elucidated that carcinogenesis and fibrination were primary in injury due to Thorotrast, i.e., late injury due to Thorotrast, and that the increase in the accumulated dose in rogans and the increase of the local dose due to the gigantic growth of Thorotrast granules in organs greatly influenced carninogenesis and fibrination. (Chiba, N.)

Peak reduction for commercial buildings using energy storage

Science.gov (United States)

Chua, K. H.; Lim, Y. S.; Morris, S.

2017-11-01

Battery-based energy storage has emerged as a cost-effective solution for peak reduction due to the decrement of battery’s price. In this study, a battery-based energy storage system is developed and implemented to achieve an optimal peak reduction for commercial customers with the limited energy capacity of the energy storage. The energy storage system is formed by three bi-directional power converter rated at 5 kVA and a battery bank with capacity of 64 kWh. Three control algorithms, namely fixed-threshold, adaptive-threshold, and fuzzy-based control algorithms have been developed and implemented into the energy storage system in a campus building. The control algorithms are evaluated and compared under different load conditions. The overall experimental results show that the fuzzy-based controller is the most effective algorithm among the three controllers in peak reduction. The fuzzy-based control algorithm is capable of incorporating a priori qualitative knowledge and expertise about the load characteristic of the buildings as well as the useable energy without over-discharging the batteries.

Multi-Level Bitmap Indexes for Flash Memory Storage

Energy Technology Data Exchange (ETDEWEB)

Wu, Kesheng; Madduri, Kamesh; Canon, Shane

2010-07-23

Due to their low access latency, high read speed, and power-efficient operation, flash memory storage devices are rapidly emerging as an attractive alternative to traditional magnetic storage devices. However, tests show that the most efficient indexing methods are not able to take advantage of the flash memory storage devices. In this paper, we present a set of multi-level bitmap indexes that can effectively take advantage of flash storage devices. These indexing methods use coarsely binned indexes to answer queries approximately, and then use finely binned indexes to refine the answers. Our new methods read significantly lower volumes of data at the expense of an increased disk access count, thus taking full advantage of the improved read speed and low access latency of flash devices. To demonstrate the advantage of these new indexes, we measure their performance on a number of storage systems using a standard data warehousing benchmark called the Set Query Benchmark. We observe that multi-level strategies on flash drives are up to 3 times faster than traditional indexing strategies on magnetic disk drives.

Developing new transportable storage casks for interim dry storage

International Nuclear Information System (INIS)

Hayashi, K.; Iwasa, K.; Araki, K.; Asano, R.

2004-01-01

Transportable storage metal casks are to be consistently used during transport and storage for AFR interim dry storage facilities planning in Japan. The casks are required to comply with the technical standards of regulations for both transport (hereinafter called ''transport regulation'') and storage (hereafter called ''storage regulation'') to maintain safety functions (heat transfer, containment, shielding and sub-critical control). In addition to these requirements, it is not planned in normal state to change the seal materials during storage at the storage facility, therefore it is requested to use same seal materials when the casks are transported after storage period. The dry transportable storage metal casks that satisfy the requirements have been developed to meet the needs of the dry storage facilities. The basic policy of this development is to utilize proven technology achieved from our design and fabrication experience, to carry out necessary verification for new designs and to realize a safe and rational design with higher capacity and efficient fabrication

Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature.

Science.gov (United States)

Voorink-Moret, M; Goorden, S M I; van Kuilenburg, A B P; Wijburg, F A; Ghauharali-van der Vlugt, J M M; Beers-Stet, F S; Zoetekouw, A; Kulik, W; Hollak, C E M; Vaz, F M

2018-02-01

In patients suspected of a lipid storage disorder (sphingolipidoses, lipidoses), confirmation of the diagnosis relies predominantly on the measurement of specific enzymatic activities and genetic studies. New UPLC-MS/MS methods have been developed to measure lysosphingolipids and oxysterols, which, combined with chitotriosidase activity may represent a rapid first tier screening for lipid storage disorders. A lysosphingolipid panel consisting of lysoglobotriaosylceramide (LysoGb3), lysohexosylceramide (LysoHexCer: both lysoglucosylceramide and lysogalactosylceramide), lysosphingomyelin (LysoSM) and its carboxylated analogue lysosphingomyelin-509 (LysoSM-509) was measured in control subjects and plasma samples of predominantly untreated patients affected with lipid storage disorders (n=74). In addition, the oxysterols cholestane-3β,5α,6β-triol and 7-ketocholesterol were measured in a subset of these patients (n=36) as well as chitotriosidase activity (n=43). A systematic review of the literature was performed to assess the usefulness of these biochemical markers. Specific elevations of metabolites, i.e. without overlap between controls and other lipid storage disorders, were found for several lysosomal storage diseases: increased LysoSM levels in acid sphingomyelinase deficiency (Niemann-Pick disease type A/B), LysoGb3 levels in males with classical phenotype Fabry disease and LysoHexCer (i.e. lysoglucosylceramide/lysogalactosylceramide) in Gaucher and Krabbe diseases. While elevated levels of LysoSM-509 and cholestane-3β,5α,6β-triol did not discriminate between Niemann Pick disease type C and acid sphingomyelinase deficiency, LysoSM-509/LysoSM ratio was specifically elevated in Niemann-Pick disease type C. In Gaucher disease type I, mild increases in several lysosphingolipids were found including LysoGb3 with levels in the range of non-classical Fabry males and females. Chitotriosidase showed specific elevations in symptomatic Gaucher disease, and was mildly

Risk of Foot-and-Mouth Disease spread due to sole occupancy authorities and linked cattle holdings.

Directory of Open Access Journals (Sweden)

Richard J Orton

Full Text Available Livestock movements in Great Britain are well recorded, have been extensively analysed with respect to their role in disease spread, and have been used in real time to advise governments on the control of infectious diseases. Typically, livestock holdings are treated as distinct entities that must observe movement standstills upon receipt of livestock, and must report livestock movements. However, there are currently two dispensations that can exempt holdings from either observing standstills or reporting movements, namely the Sole Occupancy Authority (SOA and Cattle Tracing System (CTS Links, respectively. In this report we have used a combination of data analyses and computational modelling to investigate the usage and potential impact of such linked holdings on the size of a Foot-and-Mouth Disease (FMD epidemic. Our analyses show that although SOAs are abundant, their dynamics appear relatively stagnant. The number of CTS Links is also abundant, and increasing rapidly. Although most linked holdings are only involved in a single CTS Link, some holdings are involved in numerous links that can be amalgamated to form "CTS Chains" which can be both large and geographically dispersed. Our model predicts that under a worst case scenario of "one infected - all infected", SOAs do pose a risk of increasing the size (in terms of number of infected holdings of a FMD epidemic, but this increase is mainly due to intra-SOA infection spread events. Furthermore, although SOAs do increase the geographic spread of an epidemic, this increase is predominantly local. Whereas, CTS Chains pose a risk of increasing both the size and the geographical spread of the disease substantially, under a worse case scenario. Our results highlight the need for further investigations into whether CTS Chains are transmission chains, and also investigations into intra-SOA movements and livestock distributions due to the lack of current data.

Design criteria tank farm storage and staging facility. Revision 1

International Nuclear Information System (INIS)

Lott, D.T.

1994-01-01

Tank Farms Operations must store/stage material and equipment until work packages are ready to work. Consumable materials are also required to be stored for routine and emergency work. Connex boxes and open storage is currently used for much of the storage because of the limited space at 272AW and 272WA. Safety issues based on poor housekeeping and material deteriorating due to weather damage has resulted from this inadequate storage space. It has been determined that a storage building in close proximity to the Tank Farm work force would be cost effective. Project W-402 and W-413 will provide a storage/staging area in 200 East and West Areas by the construction of two new storage facilities. The new facilities will be used by Operations, Maintenance and Materials groups to adequately store material and equipment. These projects will also furnish electrical services to the facilities for lighting and HVAC. Fire Protection shall be extended to the 200 East facility from 272AW if necessary

Gas storage - Estimation of the economic value

International Nuclear Information System (INIS)

1997-05-01

The main purpose of the project is to investigate the economic benefits of underground gas storage used for seasonal smoothing and a strategical security of supply. The benefits from the storage have to be decided based on the costs of alternative have to be ways of securing the energy supply, including evaluation of: demand-dependent prices on natural gas and other fuels (both domestic and foreign markets); interruptible supply; establishment of extra production and transportation capacity from the North Sea; establishment of new connecting systems to neighbouring countries (i.a. German, Poland, Latvia); establishment for import or production and LNG; contracting of storage capacity abroad (Germany, Czech Republic, Slovakia, Latvia). In order to control the estimated costs of storage of natural gas a comparison with market prices for storage capacity and spot prices of natural gas is carried out. The market prices were estimated through a statistical analysis of seasonal variations in gas prices on the American natural gas market. Due to permanent energy taxes, the energy prices only partially reflect the demand and the price elasticity hence is very small, resulting in a need for e.g. gas storage. One purpose of the project is to investigate this system error and to present alternative suggestions for the tax structure. Additionally, the consequences of differentiating production taxes will be addressed. (EG)

Gas storages - Estimation of the economic value

Energy Technology Data Exchange (ETDEWEB)

NONE

1997-05-01

The main purpose of the project is to investigate the economic benefits of underground gas storage used for seasonal smoothing and a strategical security of supply. The benefits from the storage have to be decided based on the costs of alternative have to be ways of securing the energy supply, including evaluation of: demand-dependent prices on natural gas and other fuels (both domestic and foreign markets); interruptible supply; establishment of extra production and transportation capacity from the North Sea; establishment of new connecting systems to neighbouring countries (i.a. German, Poland, Latvia); establishment for import or production and LNG; contracting of storage capacity abroad (Germany, Czech Republic, Slovakia, Latvia). In order to control the estimated costs of storage of natural gas a comparison with market prices for storage capacity and spot prices of natural gas is carried out. The market prices were estimated through a statistical analysis of seasonal variations in gas prices on the American natural gas market. Due to permanent energy taxes, the energy prices only partially reflect the demand and the price elasticity hence is very small, resulting in a need for e.g. gas storage. One purpose of the project is to investigate this system error and to present alternative suggestions for the tax structure. Additionally, the consequences of differentiating production taxes will be addressed. (EG)

Glycogen storage disease type III: modified Atkins diet improves myopathy.

Science.gov (United States)

Mayorandan, Sebene; Meyer, Uta; Hartmann, Hans; Das, Anibh Martin

2014-11-28

Frequent feeds with carbohydrate-rich meals or continuous enteral feeding has been the therapy of choice in glycogen storage disease (Glycogenosis) type III. Recent guidelines on diagnosis and management recommend frequent feedings with high complex carbohydrates or cornstarch avoiding fasting in children, while in adults a low-carb-high-protein-diet is recommended. While this regimen can prevent hypoglycaemia in children it does not improve skeletal and heart muscle function, which are compromised in patients with glycogenosis IIIa. Administration of carbohydrates may elicit reactive hyperinsulinism, resulting in suppression of lipolysis, ketogenesis, gluconeogenesis, and activation of glycogen synthesis. Thus, heart and skeletal muscle are depleted of energy substrates. Modified Atkins diet leads to increased blood levels of ketone bodies and fatty acids. We hypothesize that this health care intervention improves the energetic balance of muscles. We treated 2 boys with glycogenosis IIIa aged 9 and 11 years with a modified Atkins diet (10 g carbohydrate per day, protein and fatty acids ad libitum) over a period of 32 and 26 months, respectively. In both patients, creatine kinase levels in blood dropped in response to Atkins diet. When diet was withdrawn in one of the patients he complained of chest pain, reduced physical strength and creatine kinase levels rapidly increased. This was reversed when Atkins diet was reintroduced. One patient suffered from severe cardiomyopathy which significantly improved under diet. Patients with glycogenosis IIIa benefit from an improved energetic state of heart and skeletal muscle by introduction of Atkins diet both on a biochemical and clinical level. Apart from transient hypoglycaemia no serious adverse effects were observed.

Temperature loading and rocks mechanics at final storage of radioactive waste

International Nuclear Information System (INIS)

Leijon, B.; Stephansson, O.

1979-01-01

This report describes the rock mechanical effects - in the far field - from the thermal loading at a final storage of radioactive waste in crystalline rocks. The stress distribution of a two-storey storage is described in more details. The temperature rise in a final storage of radiactive waste will create thermal stresses which may cause a failure of the rock mass, and thereby an increase of its permeability. However, the state of stress in the Earth's crust is able to neutralize the thermal stresses. By this analysis we have been able to demonstrate that the thermal stresses due to heat conduction from the final storage are compensated by the state of stress in the upper part of the crust. The absolute stress, which is the superposition of thermal stress and virgin rock stress, is in all cases found to be below the limit of failure due to frictional resistance between surfaces of constituent blocks in the rock mass. Failure by sliding friction is the most conservative failure criterion for a rock mass. (author)

Spent fuel storage at Prairie Island: January 1995 status

International Nuclear Information System (INIS)

Closs, J.; Kress, L.

1995-01-01

The disposal of spent nuclear fuel has been an issue for the US since the inception of the commercial nuclear power industry. In the past decade, it has become a critical factor in the continued operation of some nuclear power plants, including the two units at Prairie Island. As the struggles and litigation over storage alternatives wage on, spent fuel pools continue to fill and plants edge closer to premature shutdown. Due to the delays in the construction of a federal repository, many nuclear power plants have had to seek interim storage alternatives. In the case of Prairie Island, the safest and most feasible option is dry cask storage. This paper discusses the current status of the Independent Spent Fuel Storage Installation (ISFSI) Project at Prairie Island. It provides a historical background to the project, discusses the notable developments over the past year, and presents the projected plans of the Northern States Power Company (NSP) in regards to spent fuel storage

Modification of single wall carbon nanotubes (SWNT) for hydrogen storage

Energy Technology Data Exchange (ETDEWEB)

Rashidi, A.M.; Nouralishahi, A.; Karimi, A.; Kashefi, K. [Nanotechnology Research Center, Research Institute of petroleum industry (RIPI), Tehran (Iran); Khodadadi, A.A.; Mortazavi, Y. [Chemical engineering Department, University of Tehran, Tehran (Iran)

2010-09-15

Due to unique structural, mechanical and electrical properties of single wall carbon nanotubes, SWNTs, they have been proposed as promising hydrogen storage materials especially in automotive industries. This research deals with investing of CNT's and some activated carbons hydrogen storage capacity. The CNT's were prepared through natural gas decomposition at a temperature of 900 C over cobalt-molybdenum nanoparticles supported by nanoporous magnesium oxide (Co-Mo/MgO) during a chemical vapor deposition (CVD) process. The effects of purity of CNT (80-95%wt.) on hydrogen storage were investigated here. The results showed an improvement in the hydrogen adsorption capacity with increasing the purity of CNT's. Maximum adsorption capacity was 0.8%wt. in case of CNT's with 95% purity and it may be raised up with some purification to 1%wt. which was far less than the target specified by DOE (6.5%wt.). Also some activated carbons were manufactured and the results compared to CNTs. There were no considerable H{sub 2}-storage for carbon nanotubes and activated carbons at room-temperature due to insufficient binding between H{sub 2} molecules carbon nanostructures. Therefore, hydrogen must be adsorbed via interaction of atomic hydrogen with the storage environment in order to achieve DOE target, because the H atoms have a very stronger interaction with carbon nanostructures. (author)

Entropy, pricing and productivity of pumped-storage

Science.gov (United States)

Karakatsanis, Georgios; Tyralis, Hristos; Tzouka, Katerina

2016-04-01

Pumped-storage constitutes today a mature method of bulk electricity storage in the form of hydropower. This bulk electricity storability upgrades the economic value of hydropower as it may mitigate -or even neutralize- stochastic effects deriving from various geophysical and socioeconomic factors, which produce numerous load balance inefficiencies due to increased uncertainty. Pumped-storage further holds a key role for unifying intermittent renewable (i.e. wind, solar) units with controllable non-renewable (i.e. nuclear, coal) fuel electricity generation plants into integrated energy systems. We develop a set of indicators for the measurement of performance of pumped-storage, in terms of the latter's energy and financial contribution to the energy system. More specifically, we use the concept of entropy in order to examine: (1) the statistical features -and correlations- of the energy system's intermittent components and (2) the statistical features of electricity demand prediction deviations. In this way, the macroeconomics of pumped-storage emerges naturally from its statistical features (Karakatsanis et al. 2014). In addition, these findings are combined to actual daily loads. Hence, not only the amount of energy harvested from the pumped-storage component is expected to be important, but the harvesting time as well, as the intraday price of electricity varies significantly. Additionally, the structure of the pumped-storage market proves to be a significant factor as well for the system's energy and financial performance (Paine et al. 2014). According to the above, we aim at postulating a set of general rules on the productivity of pumped-storage for (integrated) energy systems. Keywords: pumped-storage, storability, economic value of hydropower, stochastic effects, uncertainty, energy systems, entropy, intraday electricity price, productivity References 1. Karakatsanis, Georgios et al. (2014), Entropy, pricing and macroeconomics of pumped-storage systems

Third Generation Flywheels for electric storage

Energy Technology Data Exchange (ETDEWEB)

Ricci, Michael, R.; Fiske, O. James

2008-02-29

Electricity is critical to our economy, but growth in demand has saturated the power grid causing instability and blackouts. The economic penalty due to lost productivity in the US exceeds $100 billion per year. Opposition to new transmission lines and power plants, environmental restrictions, and an expected $100 billion grid upgrade cost have slowed system improvements. Flywheel electricity storage could provide a more economical, environmentally benign alternative and slash economic losses if units could be scaled up in a cost effective manner to much larger power and capacity than the present maximum of a few hundred kW and a few kWh per flywheel. The goal of this project is to design, construct, and demonstrate a small-scale third generation electricity storage flywheel using a revolutionary architecture scalable to megawatt-hours per unit. First generation flywheels are built from bulk materials such as steel and provide inertia to smooth the motion of mechanical devices such as engines. They can be scaled up to tens of tons or more, but have relatively low energy storage density. Second generation flywheels use similar designs but are fabricated with composite materials such as carbon fiber and epoxy. They are capable of much higher energy storage density but cannot economically be built larger than a few kWh of storage capacity due to structural and stability limitations. LaunchPoint is developing a third generation flywheel — the "Power Ring" — with energy densities as high or higher than second generation flywheels and a totally new architecture scalable to enormous sizes. Electricity storage capacities exceeding 5 megawatt-hours per unit appear both technically feasible and economically attractive. Our design uses a new class of magnetic bearing – a radial gap “shear-force levitator” – that we discovered and patented, and a thin-walled composite hoop rotated at high speed to store kinetic energy. One immediate application is power grid

Mitochondrial dysfunction in human skeletal muscle biopsies of lipid storage disorder.

Science.gov (United States)

Debashree, Bandopadhyay; Kumar, Manish; Keshava Prasad, Thottethodi Subrahmanya; Natarajan, Archana; Christopher, Rita; Nalini, Atchayaram; Bindu, Parayil Sankaran; Gayathri, Narayanappa; Srinivas Bharath, Muchukunte Mukunda

2018-02-09

Mitochondria regulate the balance between lipid metabolism and storage in the skeletal muscle. Altered lipid transport, metabolism and storage influence the bioenergetics, redox status and insulin signalling, contributing to cardiac and neurological diseases. Lipid storage disorders (LSDs) are neurological disorders which entail intramuscular lipid accumulation and impaired mitochondrial bioenergetics in the skeletal muscle causing progressive myopathy with muscle weakness. However, the mitochondrial changes including molecular events associated with impaired lipid storage have not been completely understood in the human skeletal muscle. We carried out morphological and biochemical analysis of mitochondrial function in muscle biopsies of human subjects with LSDs (n = 7), compared to controls (n = 10). Routine histology, enzyme histochemistry and ultrastructural analysis indicated altered muscle cell morphology and mitochondrial structure. Protein profiling of the muscle mitochondria from LSD samples (n = 5) (vs. control, n = 5) by high-throughput mass spectrometric analysis revealed that impaired metabolic processes could contribute to mitochondrial dysfunction and ensuing myopathy in LSDs. We propose that impaired fatty acid and respiratory metabolism along with increased membrane permeability, elevated lipolysis and altered cristae entail mitochondrial dysfunction in LSDs. Some of these mechanisms were unique to LSD apart from others that were common to dystrophic and inflammatory muscle pathologies. Many differentially regulated mitochondrial proteins in LSD are linked with other human diseases, indicating that mitochondrial protection via targeted drugs could be a treatment modality in LSD and related metabolic diseases. © 2018 International Society for Neurochemistry.

Developing new transportable storage casks for interim dry storage

Energy Technology Data Exchange (ETDEWEB)

Hayashi, K.; Iwasa, K.; Araki, K.; Asano, R. [Hitachi Zosen Diesel and Engineering Co., Ltd., Tokyo (Japan)

2004-07-01

Transportable storage metal casks are to be consistently used during transport and storage for AFR interim dry storage facilities planning in Japan. The casks are required to comply with the technical standards of regulations for both transport (hereinafter called ''transport regulation'') and storage (hereafter called ''storage regulation'') to maintain safety functions (heat transfer, containment, shielding and sub-critical control). In addition to these requirements, it is not planned in normal state to change the seal materials during storage at the storage facility, therefore it is requested to use same seal materials when the casks are transported after storage period. The dry transportable storage metal casks that satisfy the requirements have been developed to meet the needs of the dry storage facilities. The basic policy of this development is to utilize proven technology achieved from our design and fabrication experience, to carry out necessary verification for new designs and to realize a safe and rational design with higher capacity and efficient fabrication.

Selection of away-from-reactor facilities for spent fuel storage. A guidebook

International Nuclear Information System (INIS)

2007-09-01

This publication aims to provide information on the approaches and criteria that would have to be considered for the selection of away-from-reactor (AFR) type spent fuel storage facilities, needs for which have been growing in an increasing number of Member States producing nuclear power. The AFR facilities can be defined as a storage system functionally independent of the reactor operation providing the role of storage until a further destination such as a disposal) becomes available. Initially developed to provide additional storage space for spent fuel, some AFR storage options are now providing additional spaces for extended storage of spent fuel with a prospect for long term storage, which is becoming a progressive reality in an increasing number of Member States due to the continuing debate on issues associated with the endpoints for spent fuel management and consequent delays in the implementation of final steps, such as disposal. The importance of AFR facilities for storage of spent fuel has been recognized for several decades and addressed in various IAEA publications in the area of spent fuel management. The Guidebook on Spent Fuel Storage (Technical Reports Series No. 240 published in 1984 and revised in 1991) discusses factors to be considered in the evaluation of spent fuel storage options. A technical committee meeting (TCM) on Selection of Dry Spent Fuel Storage Technologies held in Tokyo in 1995 also deliberated on this issue. However, there has not been any stand-alone publication focusing on the topic of selection of AFR storage facilities. The selection of AFR storage facilities is in fact a critical step for the successful implementation of spent fuel management programmes, due to the long operational periods required for storage and fuel handling involved with the additional implication of subsequent penalties in reversing decisions or changing the option mid-stream especially after the construction of the facility. In such a context, the long

Hydrogen - High pressure production and storage

International Nuclear Information System (INIS)

Lauretta, J.R

2005-01-01

The development of simple, safe and more and more efficient technologies for the production and the storage of hydrogen is necessary condition for the transition towards the economy of hydrogen.In this work the hydrogen production studies experimentally to high pressure by electrolysis of alkaline solutions without the intervention of compressing systems and its direct storage in safe containers.The made tests show that the process of electrolysis to high pressure is feasible and has better yield than to low pressure, and that is possible to solve the operation problems, with relatively simple technology.The preliminary studies and tests indicate that the system container that studied is immune to the outbreak and can have forms and very different sizes, nevertheless, to reach or to surpass the efficiency of storage of the conventional systems the investments necessary will be due to make to be able to produce aluminum alloy tubes of high resistance

Sphingomyelin lipidosis (Niemann-Pick disease) in a juvenile raccoon (Procyon lotor).

Science.gov (United States)

Vapniarsky, N; Wenger, D A; Scheenstra, D; Mete, A

2013-01-01

A wild caught juvenile male raccoon with neurological disease was humanely destroyed due to poor prognosis. Necropsy examination revealed hepatomegaly, splenomegaly and multicentric lymphadenomegaly with diffuse hepatic pallor and pulmonary consolidation with pinpoint pale subpleural foci. Microscopically, there was marked pale cytoplasmic swelling of the central and peripheral neurons as well as the glial cells in the brain, accompanied by multiorgan infiltration by abundant foamy macrophages. Ultrastructural investigation revealed accumulation of concentrically arranged lamellar material within lysosomes of the affected neurons, macrophages and endothelial cells. Biochemical enzymatic analysis detected sphingomyelinase deficiency and lysosomal storage disease consistent with sphingomyelin lipidosis (Niemann-Pick disease [NPD]) was diagnosed. This is the first report of NPD in a raccoon. Copyright © 2013 Elsevier Ltd. All rights reserved.

Effect of changes in fat availability on exercise capacity in McArdle disease

DEFF Research Database (Denmark)

Andersen, S.T.; Jeppesen, T.D.; Taivassalo, T.

2009-01-01

for oxidation during exercise. DESIGN: Randomized, placebo-controlled, crossover trial. SETTING: Hospitalized care. PATIENTs: Ten patients (8 men and 2 women) with McArdle disease. INTERVENTIONS: Patients cycled at a constant workload corresponding to 70% of their maximum oxygen consumption. In random order......Ardle disease, but maximal rates of fat oxidation seem limited and cannot be increased above physiologically normal rates during exercise. This limitation is probably caused by a metabolic bottleneck in the tricarboxylic acid cycle due to impaired glycolytic flux in McArdle disease. Therapies aimed at enhancing......BACKGROUND: The major fuel for exercising muscle at low exercise intensities is fat. OBJECTIVE: To investigate the role of fat metabolism in McArdle disease (also known as glycogen storage disease type V), an inborn error of muscle glycogenolysis, by manipulating free fatty acid availability...

Energy Storage System for a Pulsed DEMO

International Nuclear Information System (INIS)

Lucas, J.; Cortes, M.; Mendez, P.; Maisonnier, D.; Hayward, J.

2006-01-01

Several designs have been proposed for DEMO, some of which will operate in pulsed mode. Since a fusion power plant will be required to deliver continuous output, this challenge must be solved. For the reference DEMO, energy storage is required at a level of 250 MWhe with a capability of delivering a power of 1 GWe. Although DEMO is scheduled to be built in about 30 years, the design of the energy storage system must be based on current technology, focusing on commercially available products and on their expected future trends. From a thorough review of the different technologies available, thermal energy storage, compressed air energy storage, water pumping, fuel cells, batteries, flywheels and ultracapacitors are the most promising solutions to energy storage for a pulsed DEMO. An outline of each of these technologies is described in the paper, showing its basis, features, advantages and disadvantages for this application. Following this review, the most suitable methods capable of storing the required energy are examined. Fuel cells are not suitable due to the power requirement. Compressed air energy storage has a lower efficiency than the required one. Thermal energy storage, based on molten salts, so more energy can be stored with a better efficiency, and water pumping are shown as the main solutions, based on existing technology. However, those are not the only solutions capable of solving our challenge. Hydrogen production, using water electrolysis, hydrogen storage and combustion in a combined cycle can achieve our energy and power requirements with an acceptable efficiency. All these solutions are studied in detail and described, evaluating their current cost and efficiency in order to compare them all. (author)

Subcooled compressed air energy storage system for coproduction of heat, cooling and electricity

NARCIS (Netherlands)

Arabkoohsar, A.; Dremark-Larsen, M.; Lorentzen, R.; Andresen, G. B.

2017-01-01

Various configurations of compressed air energy storage technology have received attention over the last years due to the advantages that this technology offers relative to other power storage technologies. This work proposes a new configuration of this technology aiming at cogeneration of

Terrestrial biosphere carbon storage under alternative climate projections

Energy Technology Data Exchange (ETDEWEB)

Schaphoff, S.; Lucht, W.; Gerten, D.; Sitch, S.; Cramer, W. [Potsdam Institute for Climate Impact Research, P.O. Box 601203, D-14412 Potsdam (Germany); Prentice, I.C. [QUEST, Department of Earth Sciences, University of Bristol, Wills Memorial Building, Bristol, BS8 1RJ (United Kingdom)

2006-01-15

This study investigates commonalities and differences in projected land biosphere carbon storage among climate change projections derived from one emission scenario by five different general circulation models (GCMs). Carbon storage is studied using a global biogeochemical process model of vegetation and soil that includes dynamic treatment of changes in vegetation composition, a recently enhanced version of the Lund-Potsdam-Jena Dynamic Global Vegetation Model (LPJ-DGVM). Uncertainty in future terrestrial carbon storage due to differences in the climate projections is large. Changes by the end of the century range from -106 to +201 PgC, thus, even the sign of the response whether source or sink, is uncertain. Three out of five climate projections produce a land carbon source by the year 2100, one is approximately neutral and one a sink. A regional breakdown shows some robust qualitative features. Large areas of the boreal forest are shown as a future CO2 source, while a sink appears in the arctic. The sign of the response in tropical and sub-tropical ecosystems differs among models, due to the large variations in simulated precipitation patterns. The largest uncertainty is in the response of tropical rainforests of South America and Central Africa.

Terrestrial biosphere carbon storage under alternative climate projections

International Nuclear Information System (INIS)

Schaphoff, S.; Lucht, W.; Gerten, D.; Sitch, S.; Cramer, W.; Prentice, I.C.

2006-01-01

This study investigates commonalities and differences in projected land biosphere carbon storage among climate change projections derived from one emission scenario by five different general circulation models (GCMs). Carbon storage is studied using a global biogeochemical process model of vegetation and soil that includes dynamic treatment of changes in vegetation composition, a recently enhanced version of the Lund-Potsdam-Jena Dynamic Global Vegetation Model (LPJ-DGVM). Uncertainty in future terrestrial carbon storage due to differences in the climate projections is large. Changes by the end of the century range from -106 to +201 PgC, thus, even the sign of the response whether source or sink, is uncertain. Three out of five climate projections produce a land carbon source by the year 2100, one is approximately neutral and one a sink. A regional breakdown shows some robust qualitative features. Large areas of the boreal forest are shown as a future CO2 source, while a sink appears in the arctic. The sign of the response in tropical and sub-tropical ecosystems differs among models, due to the large variations in simulated precipitation patterns. The largest uncertainty is in the response of tropical rainforests of South America and Central Africa

Effects of preincubation heating of broiler hatching eggs during storage, flock age, and length of storage period on hatchability.

Science.gov (United States)

Gucbilmez, M; Ozlü, S; Shiranjang, R; Elibol, O; Brake, J

2013-12-01

The effects of heating of eggs during storage, broiler breeder age, and length of egg storage on hatchability of fertile eggs were examined in this study. Eggs were collected from Ross 344 male × Ross 308 broiler breeders on paper flats, held overnight (1 d) at 18°C and 75% RH, and then transferred to plastic trays. In experiment 1, eggs were obtained at 28, 38, and 53 wk of flock age. During a further 10 d of storage, eggs either remained in the storage room (control) or were subjected to a heat treatment regimen of 26°C for 2 h, 37.8°C for 3 h, and 26°C for 2 h in a setter at d 5 of storage. In experiment 2, eggs from a flock at 28 wk of age were heated for 1 d of a 6-d storage period. Eggs from a 29-wk-old flock were either heated at d 1 or 5 of an 11-d storage period in experiment 3. In experiment 4, 27-wk-old flock eggs were heated twice at d 1 and 5 of an 11-d storage period. Control eggs stored for 6 or 11 d were coincubated as appropriate in each experiment. Heating eggs at d 5 of an 11-d storage period increased hatchability in experiment 1. Although no benefit of heating 28-wk-old flock eggs during 6 d of storage in experiment 2 was observed, heating eggs from a 29-wk-old flock at d 1 or 5 of an 11-d storage period increased hatchability in experiment 3. Further, heating eggs from a 27-wk-old flock twice during 11 d of storage increased hatchability in experiment 4. These effects were probably due to the fact that eggs from younger flocks had been reported to have many embryos at a stage of development where the hypoblast had not yet fully developed (less than EG-K12 to EG-K13), such that heating during extended storage advanced these embryos to a more resistant stage.

Neuronopathic lysosomal storage disorders: Approaches to treat the central nervous system.

Science.gov (United States)

Scarpa, Maurizio; Bellettato, Cinzia Maria; Lampe, Christina; Begley, David J

2015-03-01

Pharmacological research has always focused on developing new therapeutic strategies capable of modifying a disease's natural history and improving patients' quality of life. Despite recent advances within the fields of medicine and biology, some diseases still represent a major challenge for successful therapy. Neuronopathic lysosomal storage disorders, in particular, have high rates of morbidity and mortality and a devastating socio-economic effect. Many of the available therapies, such as enzyme replacement therapy, can reverse the natural history of the disease in peripheral organs but, unfortunately, are still unable to reach the central nervous system effectively because they cannot cross the blood-brain barrier that surrounds and protects the brain. Moreover, many lysosomal storage disorders are characterized by a number of blood-brain barrier dysfunctions, which may further contribute to disease neuropathology and accelerate neuronal cell death. These issues, and their context in the development of new therapeutic strategies, will be discussed in detail in this chapter. Copyright © 2014 Elsevier Ltd. All rights reserved.

A review on on-board challenges of magnesium-based hydrogen storage materials for automobile applications

Science.gov (United States)

Rahman, Md. Wasikur

2017-06-01

The attempt of the review is to realize on-board hydrogen storage technologies concerning magnesium based solid-state matrix to allow fuel cell devices to facilitate sufficient storage capacity, cost, safety and performance requirements to be competitive with current vehicles. Hydrogen, a potential and clean fuel, can be applied in the state-of-the-art technology of `zero emission' vehicles. Hydrogen economy infrastructure both for stationary and mobile purposes is complicated due to its critical physico-chemical properties and materials play crucial roles in every stage of hydrogen production to utilization in fuel cells in achieving high conversion efficiency, safety and robustness of the technologies involved. Moreover, traditional hydrogen storage facilities are rather complicated due to its anomalous properties such as highly porous solids and polymers have intrinsic microporosity, which is the foremost favorable characteristics of fast kinetics and reversibility, but the major drawback is the low storage capacity. In contrast, metal hydrides and complex hydrides have high hydrogen storage capacity but thermodynamically unfavorable. Therefore, hydrogen storage is a real challenge to realize `hydrogen economy' that will solve the critical issues of humanity such as energy depletion, greenhouse emission, air pollution and ultimately climate change. Magnesium based materials, particularly magnesium hydride (MgH2) has been proposed as a potential hydrogen storage material due to its high gravimetric and volumetric capacity as well as environmentally benign properties to work the grand challenge out.

Immune dysfunction in Niemann?Pick disease type C

OpenAIRE

Platt, Nick; Speak, Annelise O.; Colaco, Alexandria; Gray, James; Smith, David A.; Williams, Ian M.; Wallom, Kerri?Lee; Platt, Frances M.

2015-01-01

Abstract Lysosomal storage diseases are inherited monogenic disorders in which lysosome function is compromised. Although individually very rare, they occur at a collective frequency of approximately one in five thousand live births and usually have catastrophic consequences for health. The lysosomal storage diseases Niemann?Pick disease type C (NPC) is caused by mutations predominantly in the lysosomal integral membrane protein NPC1 and clinically presents as a progressive neurodegenerative ...

Acute kidney injury due to tropical infectious diseases and animal venoms: a tale of 2 continents.

Science.gov (United States)

Burdmann, Emmanuel A; Jha, Vivekanand

2017-05-01

South and Southeast Asia and Latin American together comprise 46 countries and are home to approximately 40% of the world population. The sociopolitical and economic heterogeneity, tropical climate, and malady transitions characteristic of the region strongly influence disease behavior and health care delivery. Acute kidney injury epidemiology mirrors these inequalities. In addition to hospital-acquired acute kidney injury in tertiary care centers, these countries face a large preventable burden of community-acquired acute kidney injury secondary to tropical infectious diseases or animal venoms, affecting previously healthy young individuals. This article reviews the epidemiology, clinical picture, prevention, risk factors, and pathophysiology of acute kidney injury associated with tropical diseases (malaria, dengue, leptospirosis, scrub typhus, and yellow fever) and animal venom (snakes, bees, caterpillars, spiders, and scorpions) in tropical regions of Asia and Latin America, and discusses the potential future challenges due to emerging issues. Copyright © 2016 International Society of Nephrology. Published by Elsevier Inc. All rights reserved.

Lysosomal storage disorders: A review of the musculoskeletal features.

Science.gov (United States)

James, Rebecca A; Singh-Grewal, Davinder; Lee, Senq-J; McGill, Jim; Adib, Navid

2016-03-01

The lysosomal storage disorders are a collection of progressive, multisystem disorders that frequently present in childhood. Their timely diagnosis is paramount as they are becoming increasingly treatable. Musculoskeletal manifestations often occur early in the disease course, hence are useful as diagnostics clues. Non-inflammatory joint stiffness or pain, carpal tunnel syndrome, trigger fingers, unexplained pain crises and short stature should all prompt consideration of a lysosomal storage disorder. Recurrent ENT infections, hepatosplenomegaly, recurrent hernias and visual/hearing impairment - especially when clustered together - are important extra-skeletal features. As diagnostic and therapeutic options continue to evolve, children with lysosomal storage disorders and their families are facing more sophisticated options for screening and treatment. The aim of this article is to highlight the paediatric presentations of lysosomal storage disorders, with an emphasis on the musculoskeletal features. © 2016 Paediatrics and Child Health Division (The Royal Australasian College of Physicians).

Scenario simulation based assessment of subsurface energy storage

Science.gov (United States)

Beyer, C.; Bauer, S.; Dahmke, A.

2014-12-01

Energy production from renewable sources such as solar or wind power is characterized by temporally varying power supply. The politically intended transition towards renewable energies in Germany („Energiewende") hence requires the installation of energy storage technologies to compensate for the fluctuating production. In this context, subsurface energy storage represents a viable option due to large potential storage capacities and the wide prevalence of suited geological formations. Technologies for subsurface energy storage comprise cavern or deep porous media storage of synthetic hydrogen or methane from electrolysis and methanization, or compressed air, as well as heat storage in shallow or moderately deep porous formations. Pressure build-up, fluid displacement or temperature changes induced by such operations may affect local and regional groundwater flow, geomechanical behavior, groundwater geochemistry and microbiology. Moreover, subsurface energy storage may interact and possibly be in conflict with other "uses" like drinking water abstraction or ecological goods and functions. An utilization of the subsurface for energy storage therefore requires an adequate system and process understanding for the evaluation and assessment of possible impacts of specific storage operations on other types of subsurface use, the affected environment and protected entities. This contribution presents the framework of the ANGUS+ project, in which tools and methods are developed for these types of assessments. Synthetic but still realistic scenarios of geological energy storage are derived and parameterized for representative North German storage sites by data acquisition and evaluation, and experimental work. Coupled numerical hydraulic, thermal, mechanical and reactive transport (THMC) simulation tools are developed and applied to simulate the energy storage and subsurface usage scenarios, which are analyzed for an assessment and generalization of the imposed THMC

Energy storage

Science.gov (United States)

Kaier, U.

1981-04-01

Developments in the area of energy storage are characterized, with respect to theory and laboratory, by an emergence of novel concepts and technologies for storing electric energy and heat. However, there are no new commercial devices on the market. New storage batteries as basis for a wider introduction of electric cars, and latent heat storage devices, as an aid for solar technology applications, with satisfactory performance standards are not yet commercially available. Devices for the intermediate storage of electric energy for solar electric-energy systems, and for satisfying peak-load current demands in the case of public utility companies are considered. In spite of many promising novel developments, there is yet no practical alternative to the lead-acid storage battery. Attention is given to central heat storage for systems transporting heat energy, small-scale heat storage installations, and large-scale technical energy-storage systems.

Severity of explicit memory impairment due to Alzheimer's disease improves effectiveness of implicit learning.

Science.gov (United States)

Klimkowicz-Mrowiec, Aleksandra; Slowik, Agnieszka; Krzywoszanski, Lukasz; Herzog-Krzywoszanska, Radosława; Szczudlik, Andrzej

2008-04-01

Consistent evidence from human and experimental animals studies indicates that memory is organized into two relatively independent systems with different functions and brain mechanisms. The explicit memory system, dependent on the hippocampus and adjacent medial temporal lobe structures, refers to conscious knowledge acquisition and intentional recollection of previous experiences. The implicit memory system, dependent on the striatum, refers to learning of complex information without awareness or intention. The functioning of implicit memory can be observed in progressive, gradual improvement across many trials in performance on implicit learning tasks. The influence of explicit memory on implicit memory has not been precisely identified yet. According to data from some studies, explicit memory seems to exhibit no influence on implicit memory,whereas the other studies indicate that explicit memory may inhibit or facilitate implicit memory. The analysis of performance on implicit learning tasks in patients with different severity of explicit memory impairment due to Alzheimer's disease allows one to identify the potential influence of the explicit memory system on the implicit memory system. 51 patients with explicit memory impairment due to Alzheimer's disease (AD) and 36 healthy controls were tested. Explicit memory was examined by means of a battery of neuropsychological tests. Implicit habit learning was examined on probabilistic classification task (weather prediction task). Patients with moderate explicit memory impairment performed the implicit task significantly better than those with mild AD and controls. Results of our study support the hypothesis of competition between the implicit and explicit memory systems in humans.

Bioinspired fractal electrodes for solar energy storages.

Science.gov (United States)

Thekkekara, Litty V; Gu, Min

2017-03-31

Solar energy storage is an emerging technology which can promote the solar energy as the primary source of electricity. Recent development of laser scribed graphene electrodes exhibiting a high electrical conductivity have enabled a green technology platform for supercapacitor-based energy storage, resulting in cost-effective, environment-friendly features, and consequent readiness for on-chip integration. Due to the limitation of the ion-accessible active porous surface area, the energy densities of these supercapacitors are restricted below ~3 × 10 -3  Whcm -3 . In this paper, we demonstrate a new design of biomimetic laser scribed graphene electrodes for solar energy storage, which embraces the structure of Fern leaves characterized by the geometric family of space filling curves of fractals. This new conceptual design removes the limit of the conventional planar supercapacitors by significantly increasing the ratio of active surface area to volume of the new electrodes and reducing the electrolyte ionic path. The attained energy density is thus significantly increased to ~10 -1  Whcm -3 - more than 30 times higher than that achievable by the planar electrodes with ~95% coulombic efficiency of the solar energy storage. The energy storages with these novel electrodes open the prospects of efficient self-powered and solar-powered wearable, flexible and portable applications.

Special file on the storage of energies

International Nuclear Information System (INIS)

Signoret, Stephane; Kim, Caroline; Bohlinger, Philippe; Petitot, Pauline; Mary, Olivier; Guilhem, Jean

2017-01-01

After brief presentations of current research and industrial activities, a first article comments the new impetus of storage technologies and projects due to regulatory and legal evolutions associated with the French law on energy transition. Self-consumption and flexibility systems in distribution networks are practical factors of this evolution. Benefits provided by energy storage are notably outlined. The next articles present several examples: a decentralised heat storage in Brest, a flywheel plant by Levisys. An article then discusses the technological and commercial aspects of the battle in this sector for the French majors (EDF, Engie, Total). An article comments the emergence and development of a range of solutions for energy storage in case of self-consumption. The next article briefly presents the Elsa project (financed by the EU) which gives a second life to electric vehicle batteries by developing an energy storage and control solution for professionals. A system developed by French researchers is briefly presented: it aims at producing electricity, at storing it, and at using it to supply isolated autonomous systems. The idea developed in a published study is then discussed: to use electric vehicle batteries to store the intermittent energy produced by renewable sources. The last article comments the integration by Enedis of intelligent devices into the grid

Bioinspired fractal electrodes for solar energy storages

Science.gov (United States)

Thekkekara, Litty V.; Gu, Min

2017-03-01

Solar energy storage is an emerging technology which can promote the solar energy as the primary source of electricity. Recent development of laser scribed graphene electrodes exhibiting a high electrical conductivity have enabled a green technology platform for supercapacitor-based energy storage, resulting in cost-effective, environment-friendly features, and consequent readiness for on-chip integration. Due to the limitation of the ion-accessible active porous surface area, the energy densities of these supercapacitors are restricted below ~3 × 10-3 Whcm-3. In this paper, we demonstrate a new design of biomimetic laser scribed graphene electrodes for solar energy storage, which embraces the structure of Fern leaves characterized by the geometric family of space filling curves of fractals. This new conceptual design removes the limit of the conventional planar supercapacitors by significantly increasing the ratio of active surface area to volume of the new electrodes and reducing the electrolyte ionic path. The attained energy density is thus significantly increased to ~10-1 Whcm-3- more than 30 times higher than that achievable by the planar electrodes with ~95% coulombic efficiency of the solar energy storage. The energy storages with these novel electrodes open the prospects of efficient self-powered and solar-powered wearable, flexible and portable applications.

Scaling up DNA data storage and random access retrieval

OpenAIRE

Gopalan, Parikshit; Ceze, Luis; Nguyen, Bichlien; Takahashi, Christopher; Newman, Sharon; Parker, Hsing-Yeh; Rashtchian, Cyrus; Seelig, Georg; Stewart, Kendall; Gupta, Gagan; Carlson, Robert; Mulligan, John; Carmean, Douglas; Yekhanin, Sergey; Makarychev, Konstantin

2017-01-01

Current storage technologies can no longer keep pace with exponentially growing amounts of data. Synthetic DNA offers an attractive alternative due to its potential information density of ~ 1018B/mm3, 107 times denser than magnetic tape, and potential durability of thousands of years. Recent advances in DNA data storage have highlighted technical challenges, in particular, coding and random access, but have stored only modest amounts of data in synthetic DNA. This paper demonstrates an end-to...

[Molecular and clinical characterization of Colombian patients suffering from type III glycogen storage disease].

Science.gov (United States)

Mantilla, Carolina; Toro, Mónica; Sepúlveda, María Elsy; Insuasty, Margarita; Di Filippo, Diana; López, Juan Álvaro; Baquero, Carolina; Navas, María Cristina; Arias, Andrés Augusto

2018-05-01

Type III glycogen storage disease (GSD III) is an autosomal recessive disorder in which a mutation in the AGL gene causes deficiency of the glycogen debranching enzyme. The disease is characterized by fasting hypoglycemia, hepatomegaly and progressive myopathy. Molecular analyses of AGL have indicated heterogeneity depending on ethnic groups. The full spectrum of AGL mutations in Colombia remains unclear. To describe the clinical and molecular characteristics of ten Colombian patients diagnosed with GSD III. We recruited ten Colombian children with a clinical and biochemical diagnosis of GSD III to undergo genetic testing. The full coding exons and the relevant exon-intron boundaries of the AGL underwent Sanger sequencing to identify mutation. All patients had the classic phenotype of the GSD III. Genetic analysis revealed a mutation p.Arg910X in two patients. One patient had the mutation p.Glu1072AspfsX36, and one case showed a compound heterozygosity with p.Arg910X and p.Glu1072AspfsX36 mutations. We also detected the deletion of AGL gene 3, 4, 5, and 6 exons in three patients. The in silico studies predicted that these defects are pathogenic. No mutations were detected in the amplified regions in three patients. We found mutations and deletions that explain the clinical phenotype of GSD III patients. This is the first report with a description of the clinical phenotype and the spectrum of AGL mutations in Colombian patients. This is important to provide appropriate prognosis and genetic counseling to the patient and their relatives.

High proportion of mannosidosis and fucosidosis among lysosomal storage diseases in Cuba.

Science.gov (United States)

Menéndez-Sainz, C; González-Quevedo, A; González-García, S; Peña-Sánchez, M; Giugliani, R

2012-08-13

Although lysosomal storage disorders (LSDs) are considered individually rare, as a group they present a non-negligible frequency. Few studies have been made of populational occurrence of LSDs; they have been conducted predominantly on Caucasian populations. We studied the occurrence of LSDs in Cuba. Data from individuals who had been referred to the Institute of Neurology and Neurosurgery in Havana from hospitals all over the country between January 1990 and December 2005 were analyzed. This institute was the only laboratory to provide enzyme-based diagnostic testing for 19 LSDs in Cuba during this period. Occurrence rates were calculated by dividing the number of postnatal diagnoses by the number of births during the study period. The combined occurrence of LSDs in Cuba was 5.6 per 100,000, lower than that reported in other studies conducted on Caucasian populations. The most frequent individual LSDs were: mucopolysaccharidosis type I (1.01 per 100,000) and, surprisingly, alpha-mannosidosis (0.72 per 100,000) and fucosidosis (0.62 per 100,000). These findings may be related to specific genetic characteristics and admixture of the Cuban population. This is the first comprehensive study of the occurrence of LSDs in Cuba. We conclude that the epidemiology of these diseases can vary regionally, and we stress the need for similar surveys in other Latin American countries.

High density fuel storage racks

International Nuclear Information System (INIS)

Groves, M.D.

1978-01-01

An apparatus is described for the safe and compact storage of nuclear fuel assemblies in an array of discrete open-ended neutron absorbing shields for which the theoretical minimum safe separation distance and cell pitch are known. Open-ended stainless steel end fittings are welded to each end of each shield and the end fittings are welded to each other in side-by-side relation, thereby reducing the cell pitch tolerance due to fabrication uncertainties. In addition, a multiplicity of ridges on the sides of each shield having a height equal to one half the theoretical minimum safe separation distance further reduce shield bowing tolerances. The net tolerance reduction permits a significant increase in the number of fuel assemblies that can be safely contained in a storage area of fixed size

Automated load balancing in the ATLAS high-performance storage software

CERN Document Server

Le Goff, Fabrice; The ATLAS collaboration

2017-01-01

The ATLAS experiment collects proton-proton collision events delivered by the LHC accelerator at CERN. The ATLAS Trigger and Data Acquisition (TDAQ) system selects, transports and eventually records event data from the detector at several gigabytes per second. The data are recorded on transient storage before being delivered to permanent storage. The transient storage consists of high-performance direct-attached storage servers accounting for about 500 hard drives. The transient storage operates dedicated software in the form of a distributed multi-threaded application. The workload includes both CPU-demanding and IO-oriented tasks. This paper presents the original application threading model for this particular workload, discussing the load-sharing strategy among the available CPU cores. The limitations of this strategy were reached in 2016 due to changes in the trigger configuration involving a new data distribution pattern. We then describe a novel data-driven load-sharing strategy, designed to automatical...

Ultrasonic characterization of pork fat crystallization during cold storage.

Science.gov (United States)

Corona, Edith; García-Pérez, José V; Santacatalina, Juan V; Ventanas, Sonia; Benedito, José

2014-05-01

In this work, the feasibility of using ultrasonic velocity measurements for characterizing and differentiating the crystallization pattern in 2 pork backfats (Montanera and Cebo Iberian fats) during cold storage (0 °C, 2 °C, 5 °C, 7 °C, and 10 °C) was evaluated. The fatty acid profile, thermal behavior, and textural properties (hardness) of fat were also determined. Both fats became harder during cold storage (average hardness increase for both fats, 11.5 N, 8 N, and 1.8 N at 0, °C 2 °C, and 5 °C , respectively), showing a 2-step pattern related with the separate crystallization of the different existing triacylglycerols, which was well described using a modified Avrami equation (explained variance > 99%). Due to a greater content of saturated triacylglycerols, Cebo fat (45.1%) was harder than Montanera (41.8%). The ultrasonic velocity followed a similar 2-step pattern to hardness during cold storage, being found an average increase for both fats of 184, 161, and 150 m/s at 0 °C 2 °C, and 5 °C, respectively. Thus, ultrasonic measurements were useful both to characterize the textural changes taking place during cold storage and to differentiate between fats with different composition. The cold storage of dry-cured meat products during their distribution and retail sale exert an important effect on their textural properties and consumers' acceptance due to the crystallization of the fat fraction, which is greatly influenced by the type of fat. In this work, a nondestructive ultrasonic technique was used to identify the textural changes provoked by the crystallization during cold storage, and to differentiate between fats, which could be used for quality control purposes. © 2014 Institute of Food Technologists®

Acute renal dysfunction in a patient presenting with rhabdomyolysis due to Hypothyroidism attributed to Hashimoto's Disease

OpenAIRE

Nikolaidou, C; Gouridou, E; Ilonidis, G; Boudouris, G

2010-01-01

We describe a patient with rhabdomyolysis and acute renal dysfunction due to hypothyroidism, attributed to Hashimoto's disease. Though rhabdomyolysis could be life-threatening, it is a rare complication of hypothyroidism, especially when other precipitating factors, such as exercise, alcohol, medications or renal failure, are absent. Nevertheless, hypothyroidism can be an authentic cause of rhabdomyolysis and should always be considered when elevated creatine kinase (CK) and other muscle enzy...

Designing lead-free antiferroelectrics for energy storage

Science.gov (United States)

Xu, Bin; Íñiguez, Jorge; Bellaiche, L.

2017-01-01

Dielectric capacitors, although presenting faster charging/discharging rates and better stability compared with supercapacitors or batteries, are limited in applications due to their low energy density. Antiferroelectric (AFE) compounds, however, show great promise due to their atypical polarization-versus-electric field curves. Here we report our first-principles-based theoretical predictions that Bi1−xRxFeO3 systems (R being a lanthanide, Nd in this work) can potentially allow high energy densities (100–150 J cm−3) and efficiencies (80–88%) for electric fields that may be within the range of feasibility upon experimental advances (2–3 MV cm−1). In addition, a simple model is derived to describe the energy density and efficiency of a general AFE material, providing a framework to assess the effect on the storage properties of variations in doping, electric field magnitude and direction, epitaxial strain, temperature and so on, which can facilitate future search of AFE materials for energy storage. PMID:28555655

[Glycogen storage disease type Ⅰa: a rare cause of gout in adolescent and young adult patients].

Science.gov (United States)

Xu, N; Huang, X M; Fang, W G; Zhang, Y; Qiu, Z Q; Zeng, X J

2018-04-01

Objective: To analyze the clinical features of secondary gout in glycogen storage disease type Ⅰa (GSD Ⅰa), so as to improve the awareness of this disease. Methods: The clinical features, laboratory findings, treatments and prognosis of 5 GSD Ⅰa patients with secondary gout who had been admitted to the Peking Union Medical College Hospital during 2006 to 2016 were collected and analyzed. GSD Ⅰa was confirmed by liver biopsy and genotyping. Results: Among the 5 patients (median age: 27 years), 3 were males and 2 were females. The mean age of gout onset was 17 ranging from 10 to 22 years old. The common manifestations of GSD included hepatomegaly since childhood, hypoglycemia, growth retardation, anemia, hyperlactacidemia and hyperlipidemia. All the 5 patients were complicated with gouty tophi and kidney stone. Gouty tophi and kidney stone were identified 3.8 years and 10.2 years after the first occurrence of articular symptoms, respectively. Renal damage occurred in 3 cases. All the patients underwent several therapeutic modalities including lifestyle intervention, allopurinol, and raw corn starch treatment. Conclusions: Determination of the presence of primary disease should be performed actively for young-onset gout with early occurrence of gouty tophi. GSD should be suspected if there exist clinical manifestations like hepatomegaly, recurrent hypoglycemia, growth retardation. Early management of hyperuricemia and gout in GSD patients is important to prevent complications and improve prognosis.

Multilayer PV-storage Microgrids Algorithm for the Dispatch of Distributed Network

Directory of Open Access Journals (Sweden)

Yang Ping

2016-01-01

Full Text Available In recent years, due to the support of our country, PV-storage microgrid develops rapidly. However, the flexible network operation modes of PV-storage microgrid change flexibly and the operating characteristics with a large amout of sources is highly complicated. Based on the existing microgrid coordinate control methods, this paper proposes multilayer PV-storage microgrid algorithm for fitting dispatch of distributed network, which achieves maximum output of renewable energy when meeting the scheduling requirements of network, by building PV-storage microgrid type dynamic simulation system in a variety of conditions in PSCAD. Simulation results show that the heuristic algorithm proposed can achieve microgrid stable operation and satisfy the demands of the dispatch in distributed network.

A case study in low-level radioactive waste storage

International Nuclear Information System (INIS)

Broderick, W.; Rella, R.J.

1984-01-01

Due to the current trend in Federal and State legislation, utilities are faced with the invitable problem of on-site storage of radioactive waste. Recognizing this problem, the New York Power Authority has taken measures to preclude the possibility of a plant shutdown due to a lack of space allocation for waste disposal at commercial burial sites coincident with an inability to safely store radioactive waste on-site. Capital funds have been appropriated for the design, engineering, and construction of an interim low-level radioactive waste storage facility. This project is currently in the preliminary design phase with a scheduled engineering completion date of September 1, 1984. Operation of the facility is expected for late 1985. The facility will provide storage space solidified liners, drums, and low specific activity (LSA) boxes at the historic rate of waste generation at the James A. Fitzpatrick Nuclear Power Plant, which is owned and operated by the New York Power Authority. Materials stored in the facility will be suitable for burial at a licensed burial facility and will be packaged to comply with the Department of Transportation regulations for shipment to a licensed burial ground. Waste shipments from the facility will normally be made on a first-in, first-out basis to minimize the storage time of any liner, drum or

Linear theory of beam depolarization due to vertical betatron motion

International Nuclear Information System (INIS)

Chao, A.W.; Schwitters, R.F.

1976-06-01

It is well known that vertical betatron motion in the presence of quantum fluctuations leads to some degree of depolarization of a transversely polarized beam in electron-positron storage rings even for energies away from spin resonances. Analytic formulations of this problem, which require the use of simplifying assumptions, generally have shown that there exist operating energies where typical storage rings should exhibit significant beam polarization. Due to the importance of beam polarization in many experiments, we present here a complete calculation of the depolarization rate to lowest order in the perturbing fields, which are taken to be linear functions of the betatron motion about the equilibrium orbit. The results are applicable to most high energy storage rings. Explicit calculations are given for SPEAR and PEP. 7 refs., 8 figs

ALGLUCOSIDASE ALFA — A NEW STAGE IN THE THERAPY OF INFANTILE POMPE DISEASE

Directory of Open Access Journals (Sweden)

E. N. Basargina

2014-01-01

Full Text Available Pompe disease is a rare severe hereditary disease caused by excessive glycogen storage in organs and target tissues due to the acid α-glucosidase gene mutation. Infantile and adult Pompe disease is characterized by involvement of cardiovascular, respiratory and muscular systems in the pathological process. The only specific method of treating Pompe disease is enzyme replacement therapy (intravenous administration of recombinant human acid glucosidase, the effectiveness whereof depends on the time the therapy started. Since such a therapy was introduced into practice, Pompe disease mortality decreased by 79%. 6 children with infantile Pompe disease were observed and treated at the cardiovascular care unit of the Scientific Center of Children’s Health in 2011‑2014. The article presents a clinical case demonstrating capabilities of diagnosing infantile Pompe disease in Russia and effective application of alglucosidase alfa in 4-month-old child. 

Gaucher disease and the synucleinopathies: refining the relationship

Directory of Open Access Journals (Sweden)

Campbell Tessa N

2012-01-01

Full Text Available Abstract Gaucher disease (OMIM 230800, 230900, 231000, the most common lysosomal storage disorder, is due to a deficiency in the enzyme glucocerebrosidase. Gaucher patients display a wide spectrum of clinical presentation, with hepatosplenomegaly, haematological changes, and orthopaedic complications being the predominant symptoms. Gaucher disease is classified into three broad phenotypes based upon the presence or absence of neurological involvement: Type 1 (non-neuronopathic, Type 2 (acute neuronopathic, and Type 3 (subacute neuronopathic. Nearly 300 mutations have been identified in Gaucher patients, with the majority being missense mutations. Though studies of genotype-to-phenotype correlations have revealed significant heterogeneity, some consistent patterns have emerged to inform prognostic and therapeutic decisions. Recent research has highlighted a potential role for Gaucher disease in other comorbidities such as cancer and Parkinson's Disease. In this review, we will examine the potential relationship between Gaucher disease and the synucleinopathies, a group of neurodegenerative disorders characterized by the development of intracellular aggregates of α-synuclein. Possible mechanisms of interaction will be discussed.

A concept of an electricity storage system with 50 MWh storage capacity

Directory of Open Access Journals (Sweden)

Józef Paska

2012-06-01

Full Text Available Electricity storage devices can be divided into indirect storage technology devices (involving electricity conversion into another form of energy, and direct storage (in an electric or magnetic fi eld. Electricity storage technologies include: pumped-storage power plants, BES Battery Energy Storage, CAES Compressed Air Energy Storage, Supercapacitors, FES Flywheel Energy Storage, SMES Superconducting Magnetic Energy Storage, FC Fuel Cells reverse or operated in systems with electrolysers and hydrogen storage. These technologies have diff erent technical characteristics and economic parameters that determine their usability. This paper presents two concepts of an electricity storage tank with a storage capacity of at least 50 MWh, using the BES battery energy storage and CAES compressed air energy storage technologies.

Gender-related differences in critical limb ischemia due to peripheral arterial occlusive disease

Directory of Open Access Journals (Sweden)

Vanessa Prado dos Santos

2013-12-01

Full Text Available BACKGROUND: Mortality from cardiovascular disease has declined among men and increased among North American women. Recent studies have revealed differences between genders in the epidemiology of atherosclerotic disease. OBJECTIVE: To study possible differences between male and female patients with critical limb ischemia (CLI according to risk factors of atherosclerosis and clinical characteristics of lower limbs with peripheral arterial occlusive disease (PAOD. METHODS: The study included 171 male and female patients treated for CLI due to infrainguinal PAOD and compared clinical characteristics (Rutherford category and PAOD territory, risk factors for atherosclerosis (diabetes, age, smoking and hypertension and number of opacified arteries on digital angiograms of the leg. The EPI-INFO software was used for statistical analysis, and the level of significance was set at p<0.05. RESULTS: Mean age was 70 years, and 88 patients were men (52%. For most patients (both genders, Rutherford category was 5 (82 % of men and 70% of women; p=0.16. The group of women had higher mean age (73 vs. 67 years; p=0.0002 and greater prevalence of diabetes (66% vs. 45%; p=0.003 and hypertension (90% vs. 56%; p=0.0000001. Among men, the prevalence of smoking was higher (76% vs. 53%; p=0.0008. The analysis of digital angiograms revealed that opacification of only one artery in the leg was found for 74% of women (vs. 50% of men. CONCLUSION: The prevalence of risk factors for atherosclerosis and the characteristics of PAOD are different between male and female patients with CLI.

Glycogen storage disease type Ia : four novel mutations (175delGG, R170X, G266V and V338F) identified. Mutations in brief no. 220. Online

NARCIS (Netherlands)

Rake, J P; ten Berge, A M; Verlind, E; Visser, G; Niezen-Koning, K E; Buys, C H; Smit, G P; Scheffer, H

1999-01-01

Deficient activity of glucose-6-phosphatase (G6Pase) causes glycogen storage disease type Ia (GSD Ia). We analysed the G6Pase gene of 16 GSD Ia patients using single strand conformation polymorphism (SSCP) analysis prior to automated sequencing of exon(s) revealing an aberrant SSCP pattern. In all

Capacity retention in hydrogen storage alloys

Science.gov (United States)

Anani, A.; Visintin, A.; Srinivasan, S.; Appleby, A. J.; Reilly, J. J.; Johnson, J. R.

1992-01-01

Results of our examination of the properties of several candidate materials for hydrogen storage electrodes and their relation to the decrease in H-storage capacity upon open-circuit storage over time are reported. In some of the alloy samples examined to date, only about 10 percent of the hydrogen capacity was lost upon storage for 20 days, while in others, this number was as high as 30 percent for the same period of time. This loss in capacity is attributed to two separate mechanisms: (1) hydrogen desorbed from the electrode due to pressure differences between the cell and the electrode sample; and (2) chemical and/or electrochemical degradation of the alloy electrode upon exposure to the cell environment. The former process is a direct consequence of the equilibrium dissociation pressure of the hydride alloy phase and the partial pressure of hydrogen in the hydride phase in equilibrium with that in the electrolyte environment, while the latter is related to the stability of the alloy phase in the cell environment. Comparison of the equilibrium gas-phase dissociation pressures of these alloys indicate that reversible loss of hydrogen capacity is higher in alloys with P(eqm) greater than 1 atm than in those with P(eqm) less than 1 atm.

A nuclear fuel cycle system dynamic model for spent fuel storage options

International Nuclear Information System (INIS)

Brinton, Samuel; Kazimi, Mujid

2013-01-01

Highlights: • Used nuclear fuel management requires a dynamic system analysis study due to its socio-technical complexity. • Economic comparison of local, regional, and national storage options is limited due to the public financial information. • Local and regional options of used nuclear fuel management are found to be the most economic means of storage. - Abstract: The options for used nuclear fuel storage location and affected parameters such as economic liabilities are currently a focus of several high level studies. A variety of nuclear fuel cycle system analysis models are available for such a task. The application of nuclear fuel cycle system dynamics models for waste management options is important to life-cycle impact assessment. The recommendations of the Blue Ribbon Committee on America’s Nuclear Future led to increased focus on long periods of spent fuel storage [1]. This motivated further investigation of the location dependency of used nuclear fuel in the parameters of economics, environmental impact, and proliferation risk. Through a review of available literature and interactions with each of the programs available, comparisons of post-reactor fuel storage and handling options will be evaluated based on the aforementioned parameters and a consensus of preferred system metrics and boundary conditions will be provided. Specifically, three options of local, regional, and national storage were studied. The preliminary product of this research is the creation of a system dynamics tool known as the Waste Management Module (WMM) which provides an easy to use interface for education on fuel cycle waste management economic impacts. Initial results of baseline cases point to positive benefits of regional storage locations with local regional storage options continuing to offer the lowest cost

Multifunctional composites for energy storage

Science.gov (United States)

Shuvo, Mohammad Arif I.; Karim, Hasanul; Rajib, Md; Delfin, Diego; Lin, Yirong

2014-03-01

Electrochemical super-capacitors have become one of the most important topics in both academia and industry as novel energy storage devices because of their high power density, long life cycles, and high charge/discharge efficiency. Recently, there has been an increasing interest in the development of multifunctional structural energy storage devices such as structural super-capacitors for applications in aerospace, automobiles and portable electronics. These multifunctional structural super-capacitors provide lighter structures combining energy storage and load bearing functionalities. Due to their superior materials properties, carbon fiber composites have been widely used in structural applications for aerospace and automotive industries. Besides, carbon fiber has good electrical conductivity which will provide lower equivalent series resistance; therefore, it can be an excellent candidate for structural energy storage applications. Hence, this paper is focused on performing a pilot study for using nanowire/carbon fiber hybrids as building materials for structural energy storage materials; aiming at enhancing the charge/discharge rate and energy density. This hybrid material combines the high specific surface area of carbon fiber and pseudo-capacitive effect of metal oxide nanowires which were grown hydrothermally in an aligned fashion on carbon fibers. The aligned nanowire array could provide a higher specific surface area that leads to high electrode-electrolyte contact area and fast ion diffusion rates. Scanning Electron Microscopy (SEM) and XRay Diffraction (XRD) measurements were used for the initial characterization of this nanowire/carbon fiber hybrid material system. Electrochemical testing has been performed using a potentio-galvanostat. The results show that gold sputtered nanowire hybrid carbon fiber provides 65.9% better performance than bare carbon fiber cloth as super-capacitor.

Remote Sensing Insights into Storage Capacities among Plains Village Horticulturalists

Science.gov (United States)

Wiewel, Adam S.

Maize was a fundamental component of the diet and economy of Middle Missouri Plains Village groups, sedentary farmers with settlements along the Missouri River during the last millennia. More than a century of study has contributed to our understanding of agricultural production among these peoples, but little effort has been made to consider temporal variation in production. Such an understanding is crucial to examining changes that occurred before and after the arrival of colonists and their trade goods in the seventeenth century. Plains archaeologists have suggested that the storage capacity of Middle Missouri villages increased during the sixteenth through the eighteenth centuries. In fact, the number and size of subterranean storage pits, ubiquitous features within most settlements, are thought to have grown during these centuries, which reflects greater agricultural production. To further examine changes in production and storage capacity during this centuries-long period, I combine information from historical documents, excavations, and geophysical investigations. At Huff Village, a fifteenth-century community, excavations and magnetic gradiometry surveys reveal the size and distribution of storage pits. Their number and average volume suggest the villagers grew immense amounts of food and contributed to widespread intertribal trade. Furthermore, storage pit excavation data from 20 regional sites, dating from the thirteenth to the nineteenth century, indicate pit volumes increased through the seventeenth century. A sharp decrease subsequently occurred during the eighteenth century due to epidemic disease. However, mean pit volumes were significantly larger during the nineteenth century, evidence of the resilience of Mandans, Hidatsas, and Arikaras and the continued significance of maize. In fact, historical documents and remote sensing data suggest the Mandans and Arikaras, successive occupants of an earthlodge village near the American Fur Company's Fort

Tritium storage

International Nuclear Information System (INIS)

Hircq, B.

1990-01-01

This document represents a synthesis relative to tritium storage. After indicating the main storage particularities as regards tritium, storages under gaseous and solid form are after examined before establishing choices as a function of the main criteria. Finally, tritium storage is discussed regarding tritium devices associated to Fusion Reactors and regarding smaller devices [fr

Contribution of water vapor pressure to pressurization of plutonium dioxide storage containers

Science.gov (United States)

Veirs, D. Kirk; Morris, John S.; Spearing, Dane R.

2000-07-01

Pressurization of long-term storage containers filled with materials meeting the US DOE storage standard is of concern.1,2 For example, temperatures within storage containers packaged according to the standard and contained in 9975 shipping packages that are stored in full view of the sun can reach internal temperatures of 250 °C.3 Twenty five grams of water (0.5 wt.%) at 250 °C in the storage container with no other material present would result in a pressure of 412 psia, which is limited by the amount of water. The pressure due to the water can be substantially reduced due to interactions with the stored material. Studies of the adsorption of water by PuO2 and surface interactions of water with PuO2 show that adsorption of 0.5 wt.% of water is feasible under many conditions and probable under high humidity conditions.4,5,6 However, no data are available on the vapor pressure of water over plutonium dioxide containing materials that have been exposed to water.

Energy storage

International Nuclear Information System (INIS)

2012-01-01

After having outlined the importance of energy storage in the present context, this document outlines that it is an answer to economic, environmental and technological issues. It proposes a brief overview of the various techniques of energy storage: under the form of chemical energy (hydrocarbons, biomass, hydrogen production), thermal energy (sensitive or latent heat storage), mechanical energy (potential energy by hydraulic or compressed air storage, kinetic energy with flywheels), electrochemical energy (in batteries), electric energy (super-capacitors, superconductor magnetic energy storage). Perspectives are briefly evoked

Operational Benefits of Meeting California’s Energy Storage Targets

Energy Technology Data Exchange (ETDEWEB)

Josh Eichman, Paul Denholm, Jennie Jorgenson, Udi Helman

2015-12-01

In October 2013, the California Public Utilities Commission (CPUC) issued rules for its jurisdictional utilities to procure a minimum of 1,325 megawatts (MW) of energy storage systems by 2020. The goal of this study is to examine the operational value of this storage portfolio in California and the rest of the Western Electricity Coordinating Council (WECC) region. Modeled results show that the storage portfolio, when providing energy and operating reserves, reduces the total WECC-wide production costs by $78 million per year in the 33% scenario. This value increases to $144 million per year in the 40% scenario, primarily because of the increase in off-peak and peak price differences that are due to additional solar generation. These values are equivalent to $59/kW-year for the storage portfolio for the 33% scenario and $109/kW-year for the 40% scenario.

MPC for Wind Power Gradients - Utilizing Forecasts, Rotor Inertia, and Central Energy Storage

DEFF Research Database (Denmark)

Hovgaard, Tobias Gybel; Larsen, Lars F. S.; Jørgensen, John Bagterp

2013-01-01

decentralized energy storage in the turbines’ inertia combined with a central storage unit or deferrable consumers can be utilized to achieve this goal at a minimum cost. We propose a variation on model predictive control to incorporate predictions of wind speed. Due to the aerodynamics of the turbines...

Evaluating the economic cost of natural gas strategic storage restrictions

International Nuclear Information System (INIS)

Ejarque, Joao Miguel

2011-01-01

The European Commission wants to implement a single market for gas. One of the components of this market is a regulated provision for ''security of supply'' which consists of rules for the implementation and use of a given reserve stock of gas. We investigate the impact of this policy on the profitability of a storage operator, using data from Denmark and Italy. Keeping storage capacity constant, the costs of the strategic stock are around 20% of the value of the storage market for Denmark, and 16% for Italy. This cost is due to the inability to extract arbitrage profits from the captive stock. Furthermore, the strategic storage restriction induces behavior that would virtually never be replicated by a private storage operator in an unconstrained market, in particular in the first 6 months of the year when unconstrained firms empty their reservoirs much faster, suggesting the strategic restriction is unnecessarily distorting the market. (author)

Effects of Particulate Matter and Its Chemical Constituents on Elderly Hospital Admissions Due to Circulatory and Respiratory Diseases

Directory of Open Access Journals (Sweden)

Tatiane Morais Ferreira

2016-09-01

Full Text Available Various fractions of particulate matter have been associated with increased mortality and morbidity. The purpose of our study is to analyze the associations between concentrations of PM2.5, PM2.5–10, PM10 and their chemical constituents (soluble ions with hospital admissions due to circulatory and respiratory diseases among the elderly in a medium-sized city in Brazil. A time series study was conducted using Poisson regression with generalized additive models adjusted for confounders. Statistically significant associations were identified between PM10 and PM2.5–10 and respiratory diseases. Risks of hospitalization increased by 23.5% (95% CI: 13.5; 34.3 and 12.8% (95% CI: 6.0; 20.0 per 10 μg/m3 of PM2.5-10 and PM10, respectively. PM2.5 exhibited a significant association with circulatory system diseases, with the risk of hospitalization increasing by 19.6% (95% CI: 6.4; 34.6 per 10 μg/m3. Regarding the chemical species; SO42−, NO3−, NH4+ and K+ exhibited specific patterns of risk, relative to the investigated outcomes. Overall, SO42− in PM2.5–10 and K+ in PM2.5 were associated with increased risk of hospital admissions due to both types of diseases. The results agree with evidence indicating that the risks for different health outcomes vary in relation to the fractions and chemical composition of PM10. Thus, PM10 speciation studies may contribute to the establishment of more selective pollution control policies.

Glycogen storage disease type Ia: linkage of glucose, glycogen, lactic acid, triglyceride, and uric acid metabolism.

Science.gov (United States)

Sever, Sakine; Weinstein, David A; Wolfsdorf, Joseph I; Gedik, Reyhan; Schaefer, Ernst J

2012-01-01

A female presented in infancy with hypotonia, undetectable serum glucose, lactic acidosis, and triglycerides >5000 mg/dL. The diagnosis of type 1A glycogen storage disease was made via the result of a liver biopsy, which showed increased glycogen and absent glucose-6-phosphatase enzyme activity. The patient was treated with dextrose administered orally, which was replaced by frequent feedings of cornstarch, which resulted in an improvement of her metabolic parameters. At age 18 years of age, she had marked hypertriglyceridemia (3860 mg/dL) and eruptive xanthomas and was treated with fenofibrate, atorvastatin, and fish oil. At age 29 years she was noted to have multiple liver adenomas, severe anemia, and hyperuricemia. Aggressive cornstarch therapy was commenced with a goal of maintaining her blood glucose levels >75 mg/dL and lactate levels triglycerides 179, high-density lipoprotein cholesterol 32, and calculated low-density lipoprotein cholesterol 154. Her weight was stable with a body mass index of 24.8 kg/m(2). Her liver adenomas had decreased in size, and her anemia and hyperuricemia had improved. She was homozygous for the R83C missense mutation in G6PC. Our data indicate that optimized metabolic control to maintain blood glucose levels >75 mg/dL is critical in the management of this disease. Copyright © 2012. Published by Elsevier Inc.

Lysosomal exocytosis and lipid storage disorders.

Science.gov (United States)

Samie, Mohammad Ali; Xu, Haoxing

2014-06-01

Lysosomes are acidic compartments in mammalian cells that are primarily responsible for the breakdown of endocytic and autophagic substrates such as membranes, proteins, and lipids into their basic building blocks. Lysosomal storage diseases (LSDs) are a group of metabolic disorders caused by genetic mutations in lysosomal hydrolases required for catabolic degradation, mutations in lysosomal membrane proteins important for catabolite export or membrane trafficking, or mutations in nonlysosomal proteins indirectly affecting these lysosomal functions. A hallmark feature of LSDs is the primary and secondary excessive accumulation of undigested lipids in the lysosome, which causes lysosomal dysfunction and cell death, and subsequently pathological symptoms in various tissues and organs. There are more than 60 types of LSDs, but an effective therapeutic strategy is still lacking for most of them. Several recent in vitro and in vivo studies suggest that induction of lysosomal exocytosis could effectively reduce the accumulation of the storage materials. Meanwhile, the molecular machinery and regulatory mechanisms for lysosomal exocytosis are beginning to be revealed. In this paper, we first discuss these recent developments with the focus on the functional interactions between lipid storage and lysosomal exocytosis. We then discuss whether lysosomal exocytosis can be manipulated to correct lysosomal and cellular dysfunction caused by excessive lipid storage, providing a potentially general therapeutic approach for LSDs. Copyright © 2014 by the American Society for Biochemistry and Molecular Biology, Inc.

Lysosomal exocytosis and lipid storage disorders

Science.gov (United States)

Samie, Mohammad Ali; Xu, Haoxing

2014-01-01

Lysosomes are acidic compartments in mammalian cells that are primarily responsible for the breakdown of endocytic and autophagic substrates such as membranes, proteins, and lipids into their basic building blocks. Lysosomal storage diseases (LSDs) are a group of metabolic disorders caused by genetic mutations in lysosomal hydrolases required for catabolic degradation, mutations in lysosomal membrane proteins important for catabolite export or membrane trafficking, or mutations in nonlysosomal proteins indirectly affecting these lysosomal functions. A hallmark feature of LSDs is the primary and secondary excessive accumulation of undigested lipids in the lysosome, which causes lysosomal dysfunction and cell death, and subsequently pathological symptoms in various tissues and organs. There are more than 60 types of LSDs, but an effective therapeutic strategy is still lacking for most of them. Several recent in vitro and in vivo studies suggest that induction of lysosomal exocytosis could effectively reduce the accumulation of the storage materials. Meanwhile, the molecular machinery and regulatory mechanisms for lysosomal exocytosis are beginning to be revealed. In this paper, we first discuss these recent developments with the focus on the functional interactions between lipid storage and lysosomal exocytosis. We then discuss whether lysosomal exocytosis can be manipulated to correct lysosomal and cellular dysfunction caused by excessive lipid storage, providing a potentially general therapeutic approach for LSDs. PMID:24668941

On the value and price-responsiveness of ramp-constrained storage

International Nuclear Information System (INIS)

Faghih, Ali; Roozbehani, Mardavij; Dahleh, Munther A.

2013-01-01

Highlights: • Derived the optimal policy and value function for ramp-constrained storage. • Gave analytic bound on long-term value, and explicit formulas for policy thresholds. • Value of storage saturates as capacity increases, regardless of price volatility. • In expectation, storage can induce high price elasticity near the mean price. • The buy/sell phase transition region in the price-state plane is steep. - Abstract: The primary concerns of this paper are twofold: understanding the value of storage in the presence of ramp constraints and exogenous energy prices, and understanding the implications of the associated optimal storage management policy for qualitative and quantitative characteristics of storage response to real-time prices. The optimal policy, along with the associated finite-horizon time-averaged value of storage, are analytically characterized in this paper. An analytical upper bound on the infinite-horizon time-averaged value of storage is also derived. This bound is valid for any achievable realization of prices when the support of the distribution is fixed, and highlights the dependence of the value of storage on ramp constraints and storage capacity. It is shown that while the value of storage is a non-decreasing function of price volatility, due to the finite ramp rate, the value of storage saturates quickly as the capacity increases, regardless of volatility. To study the implications of the optimal policy, computational experiments are presented that suggest optimal utilization of storage can, in expectation, induce a considerable amount of price elasticity near the average price. Then, a computational framework is presented for characterization of the behavior of storage as a function of price and the state of charge, which illustrates a steep buy/sell phase transition in the price-state plane

Long-term storage of compressed radioactive krypton in cylinders

International Nuclear Information System (INIS)

Niephaus, D.; Nommensen, O.; Bruecher, H.

1982-01-01

The recommendations of the German Radiation Protection Commission necessitate the separation of the radioactive noble gas krypton-85 (Kr-85) produced in large LWR reprocessing plants from the dissolver off-gas. A possible method of removal is a long-term storage of the compressed noble gas above ground in cylinders. The aim of the present study is to develop such a storage concept and evaluate its feasibility under the aspects of safety and cost. After having been filled, the gas cylinders are placed separately into transport racks serving to protect the cylinders. Following this, the cylinders are transferred out of the filling station in a transport cask, conveyed to the storage building and stored there. The storage building protects the gas cylinders against external impacts. The storage cells constitute a second barrier against the release of Kr-85. The heat produced during decay of the Kr-85 in the gas cylinders is carried off by natural convection of the air circulating in the storage cells. To study possible corrosion attack on special steels due to rubidium, experiments were conducted at 200 0 C during test periods up to 3500h. In order to compare properties at elevated temperatures, corrosion experiments were conducted at 500 0 C, which is far above the maximum licensed storage temperature of 200 0 C. Experiments were conducted concerning the adsorption of krypton on various adsorbents, thus reducing the pressure inside the gas cylinder during storage. A cost estimate based on 1980 prices

The value of electricity storage in energy-only electricity markets

Science.gov (United States)

McConnell, D.; Forcey, T.; Sandiford, M.

2015-12-01

Price volatility and the prospect of increasing renewable energy generation have raised interest in the potential opportunities for storage technologies in energy-only electricity markets. In this paper we explore the value of a price-taking storage device in such a market, the National Electricity Market (NEM) in Australia. Our analysis suggests that under optimal operation, there is little value in having more than six hours of storage in this market. However, the inability to perfectly forecast wholesale prices, particularly extreme price spikes, may warrant some additional storage. We found that storage devices effectively provide a similar service as peak generators (such as Open Cycle Gas Turbines) and are similarly dependent on and exposed to extreme price events, with revenue for a merchant generator highly skewed to a few days of the year. In contrast to previous studies, this results in the round trip efficiency of the storage being relatively insignificant. Financing using hedging strategies similar to a peak generator effectively reduces the variability of revenue and exposure of storage to extreme prices. Our case study demonstrates that storage may have a competitive advantage over other peaking generators on the NEM, due to its ability to earn revenue outside of extreme peak events. As a consequence the outlook for storage options on the NEM is dependent on volatility, in turn dependent on capacity requirements. Further to this, increased integration of renewable energy may both depend on storage and improve the outlook for storage in technologies in electricity markets.

Coordinated control of wind power and energy storage

DEFF Research Database (Denmark)

Zhao, Haoran

the coordinated control of wind power and ESS. Due to the different technical characteristics, such as power and energy density, ESS can play different roles either in generation-side, grid-side or demand side. This thesis focuses on the following two scenarios:• Scenario 1: As a part of wind farm, the ESS plays......Nowadays, wind power has become one of the fastest growing sources of electricity in the world. Due to the inherent variability and uncertainty, wind power integration into the grid brings challenges for power systems, particularly when the wind power penetration level is high. The challenges exist...... in many aspects, such as reliability, power quality and stability. With the rapid development of energy storage technology, the application of Energy Storage System (ESS) is considered as an effective solution to handle the aforementioned challenges. The main objective of this study is to investigate...

Dry storage developments in France build on CASCAD experience

International Nuclear Information System (INIS)

Bonnet, C.; Giraud, C.

1992-01-01

The CASCAD dry store, located at CEA's research centre at Cadarache, stores spent fuel from the EL4 heavy water reactor and the Osiris research reactor. The design was based on the following criteria: Storage period. Interim storage is provided for 50 years. Containment. The fuel is contained by a multiple barrier system consisting of: the fuel canister (primary barrier); the sealed stainless steel storage well; and the storage building which includes a ventilation system to provide dynamic containment during handling operations. The fuel is loaded into canisters at the reactor site to avoid contamination in the storage building. The integrity of the primary barrier is periodically monitored by sampling of air from the storage well. Cooling. The storage wells are cooled by a natural convection system that maintains the temperature of the fuel below its stated limit and the temperature of the concrete below 80 o C. Criticality. Criticality incidents are prevented by static design measures such as maintaining a minimum pitch between storage wells and providing sufficient storage well diameter. Radiation protection. Radiation shielding limits the maximum equivalent dose rate for operating personnel to less than 25μSv/h at the handling cell floor and the wall adjoining the control room, and to less than 7.5μSv/h at the outside walls of the storage building. Cannister design. The canister must resist corrosion caused by condensation as well as pressure due to radiolytic gases. The canister must also withstand a drop of up to 10m without losing its integrity. The design has now been adapted to accommodate light reactor fuels and is known as CASCAD+. (Author)

Zirconium-Based metal organic framework (Zr-MOF) material with high hydrostability for hydrogen storage applications

CSIR Research Space (South Africa)

Ren, Jianwei

2013-09-01

Full Text Available Material-based solutions, such as metal organic frameworks (MOFs), continue to attract increasing attention as viable options for hydrogen storage applications. MOFs are widely regarded as promising materials for hydrogen storage due to their high...

Muscle MRI in neutral lipid storage disease with myopathy carrying mutation c.187+1G>A.

Science.gov (United States)

Xu, Chunxiao; Zhao, Yawen; Liu, Jing; Zhang, Wei; Wang, Zhaoxia; Yuan, Yun

2015-06-01

We describe the clinical and muscle MRI changes in 2 siblings with neutral lipid storage disease with myopathy (NLSDM) carrying the mutation c.187+1G>A. Peripheral blood smears, genetic tests, and muscle biopsies were performed. Thigh MRI was performed to observe fatty replacement, muscle edema, and muscle bulk from axial sections. Both siblings had similar fatty infiltration and edema. T1-weighted images of the gluteus maximus, adductor magnus, semitendinosus, and semimembranosus revealed marked and diffuse fatty infiltration. There was asymmetric involvement in biceps femoris and quadriceps. There was extensive fatty infiltration in the quadriceps, except for the rectus femoris. Gracilis and sartorius were relatively spared. Thigh muscle volume was decreased, while the gracilis and sartorius appeared to show compensatory hypertrophy. Compared with previous reports in NLSDM, MRI changes in this myopathy tended to be more severe. Asymmetry and relatively selective fatty infiltration were characteristics. © 2014 Wiley Periodicals, Inc.

Endocrine-Manifestations of Cirrhosis and Liver Disease

Directory of Open Access Journals (Sweden)

M Khalili

2014-04-01

Full Text Available The liver is involved in the synthesis and metabolism of many kinds of hormones, various abnormalities hormone levels are found in advanced liver disease. For example the liver is, extremely sensitive to changes in insulin or glucagon levels. The liver is the primary organ of iron storage is frequently involved, diabetes is common in patients with iron overload and may be seen in cirrhosis. Chronic infection with HCV is associated with insulin resistance. Thyroid disease often accompanies chronic hepatitis C infection .Anti thyroid autoantibodies are also found in chronic HCV infection. Nonalcoholic liver disease (NAFLDas a most common cause of chronic liver disease in western world ,as well accompanied by Type 2 diabetes and hyperlipidemia. Hypopituitarism and hypothyroidism also have been in NAFLD.The patients with NAFLD and Hypopituitarism may be susceptible to central obesity, dyslipidemia and insulin resistance leading to disease progression. Hepatic cirrhosis as the end stage of chronic liver disease is also associated with hypogonadism and signs of feminization. The peripheral metabolism of steroids is altered in many of hypogonadism, low testosterone level decreased libido, infertility, reduced secondary sex hair and gynecomastia, reduced spermatogenesis and peritubular fibrosis are found in men with cirrhosis .The normal function of the hypothalamic-pituitary gonadal axis is affected in liver disease. In cirrhotic patients the estrogen/androgen ratio is usually increased, the level of testosterone and dihydroepiandosteron are reduced while the estradiol level are normal or slightly elevated, these alterations are dependent on the severity of the liver disease.Succsesfull orthotropic liver transplantation  leads to improvement of the sex hormone disturbances. The pathogenesis of gynecomastia is due to the loss of equilibrium between estrogen and androgen caused by a feminizing state but it is due to increased estrogen precursor in

High to ultra-high power electrical energy storage.

Science.gov (United States)

Sherrill, Stefanie A; Banerjee, Parag; Rubloff, Gary W; Lee, Sang Bok

2011-12-14

High power electrical energy storage systems are becoming critical devices for advanced energy storage technology. This is true in part due to their high rate capabilities and moderate energy densities which allow them to capture power efficiently from evanescent, renewable energy sources. High power systems include both electrochemical capacitors and electrostatic capacitors. These devices have fast charging and discharging rates, supplying energy within seconds or less. Recent research has focused on increasing power and energy density of the devices using advanced materials and novel architectural design. An increase in understanding of structure-property relationships in nanomaterials and interfaces and the ability to control nanostructures precisely has led to an immense improvement in the performance characteristics of these devices. In this review, we discuss the recent advances for both electrochemical and electrostatic capacitors as high power electrical energy storage systems, and propose directions and challenges for the future. We asses the opportunities in nanostructure-based high power electrical energy storage devices and include electrochemical and electrostatic capacitors for their potential to open the door to a new regime of power energy.

Cycloaddition in peptides for high-capacity optical storage

DEFF Research Database (Denmark)

Lohse, Brian; Berg, Rolf Henrik; Hvilsted, Søren

2006-01-01

Photodimerization of chromophores attached to a short peptide chain is investigated for high-capacity optical digital storage with UV lasers. The length and rigidity of the peptide chain assure an optimal distance and orientation of the chromophores for effective photodimerization. Using a theory...... developed by Tomlinson, the absorption cross section for the dimerization process in a uracil-ornithine-based hexamer is determined to be 9 x 10(-20) cm(2). A large change in the transmission due to irradiation in the UV area may make it possible to realize multilevel storage in a thin film of the peptides....

New organic materials for optics: optical storage and nonlinear optics

International Nuclear Information System (INIS)

Gan, F.

1996-01-01

New organic materials have received considerable attention recently, due to their easy preparation and different variety. The most application fields in optics are optical storage and nonlinear optics. In optical storage the organic dyes have been used for example, in record able and erasable compact disks (CD-R, CD-E) nonlinear optical effects, such as nonlinear optical absorption, second and third order optical absorption, second and third order optical nonlinearities, can be applied for making optical limiters, optical modulators, as well as laser second and third harmonic generations. Due to high value of optical absorption and optical nonlinearity organic materials are always used as thin films in optical integration. In this paper the new experimental results have been presented, and future development has been also discussed. (author)

Thermochemical Heat Storage: from Reaction Storage Density to System Storage Density

NARCIS (Netherlands)

Jong, A.J. de; Vliet, L.D. van; Hoegaerts, C.L.G.; Roelands, C.P.M.; Cuypers, R.

2016-01-01

Long-term and compact storage of solar energy is crucial for the eventual transition to a 100% renewable energy economy. For this, thermochemical materials provide a promising solution. The compactness of a long-term storage system is determined by the thermochemical reaction, operating conditions,

Influence of storage period on properties of biopolymer packaging materials and pouches

Directory of Open Access Journals (Sweden)

Bulut Sandra N.

2017-01-01

Full Text Available Bilayer biodegradable films based on pumpkin oil cake (PuOC and zein, as well as pouches made from these materials, were prepared, and the changes of their mechanical, physicochemical and barrier properties were analyzed during four weeks of storage. Heat seal quality of formed pouches and composition of the gas atmosphere in the pouches were also monitored. The results showed that the bilayer film had a thickness of 300 ± 10 (μm, and no its changes were observed during the storage time. The tensile strength of the tested film increased slightly in the third week, but the elongation at break showed a decreasing trend during the whole storage period. The decreases in the moisture content, total soluble matter and swelling of the obtained film, were also observed. After one month of storage, the O2 transmission rate of tested films, increased from 27 to 64 (ml/m2 24h 1 bar, and the CO2 gas transmission rate from 147 to 188 (ml/m2 24h 1 bar. The heat seal strength of the PuOC/Zein pouches decreased during the whole storage period. The percentage of O2 in PuOC/Zein pouches increased up to 7 times during the storage period; however, the percentage of CO2 decreased up to 18 times already after one week, and then remained stable in the rest of the storage period. These results are, to a smaller extent, due to the gas transmission rate through the material, especially for CO2 , and to a greater extent, due to the low heat seal strength, which decreased through the storage period, and probably influenced the content of the gases in the pouches.[Project of the Serbian Ministry of Education, Science and Technological Development, Grant no. 46010

Low pressure storage of natural gas on activated carbon