Search results for "STORAGE"
showing 10 items of 1239 documents
Branching enzyme deficiency/glycogenosis storage disease type IV presenting as a severe congenital hypotonia: muscle biopsy and autopsy findings, bio…
2010
The fatal infantile neuromuscular presentation of branching enzyme deficiency (glycogen storage disease type IV) due to mutations in the gene encoding the glycogen branching enzyme, is a rare but probably underdiagnosed cause of congenital hypotonia. We report an infant girl with severe generalized hypotonia, born at 33 weeks gestation who required ventilatory assistance since birth. She had bilateral ptosis, mild knee and foot contractures and echocardiographic evidence of cardiomyopathy. A muscle biopsy at 1 month of age showed typical polyglucosan storage. The autopsy at 3.5 months of age showed frontal cortex polymicrogyria and polyglucosan bodies in neurons of basal ganglia, thalamus, …
Concrete thermal energy storage for linear Fresnel collectors: Exploiting the South Mediterranean’s solar potential for agri-food processes
2018
Abstract Italy is celebrated in the world for its agri-food industries while the process of production of pasta is highly energy demanding and requires both electrical and thermal energy simultaneously. Because most of the Italian factories producing pasta are located in the Southern part of the country, the direct use of thermal energy generated from the sun would be particularly profitable. In this study, the authors examine the possibility of generating by a Solar Industrial Process Heating plant the thermal energy required annually by an existing factory that produces durum wheat pasta located in Sicily (Italy). The hypothesized plant scheme consists of an array of Fresnel linear solar …
Methods for a prompt and reliable laboratory diagnosis of Pompe disease : report from an international consensus meeting
2008
Pompe disease is an autosomal recessive disorder of glycogen metabolism caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). It presents at any age, with variable rates of progression ranging from a rapidly progressive course, often fatal by one-year of age, to a more slowly, but nevertheless relentlessly progressive course, resulting in significant morbidity and premature mortality. In infants, early initiation of enzyme replacement therapy is needed to gain the maximum therapeutic benefit, underscoring the need for early diagnosis. Several new methods for measuring GAA activity have been developed. The Pompe Disease Diagnostic Working Group met to review data gener…
Clinical and Genetic Aspects of Juvenile Onset Pompe Disease
2021
AbstractLittle is known about clinical symptomatology and genetics of juvenile onset Pompe disease (JOPD). The aims of this study were to analyze how these children are diagnosed, what clinical problems they have, and how phenotype is related to genotype. To accomplish this, we analyzed retrospectively data of 34 patients diagnosed after their first and before completion of their 18th birthday. Median age at diagnosis was 3.9 (range 1.1–17) years. Eight patients (23.5%) developed initial symptoms in the first year, 12 (35%) between 1 and 7 years, and 6 (18%) thereafter. Eight (23.5%) had no clinical symptoms at the time of diagnosis. Indications for diagnostics were a positive family histor…
Commentary: Anderson‐Fabry Disease: A Rare Cause of Levodopa‐Responsive Early Onset Parkinsonism
2021
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Diagnostik und Therapie des Morbus Pompe im Kindesalter
2020
Pompe disease is a rare metabolic myopathy caused by deficiency of lysosomal α-glucosidase. Reduced enzyme activity results in abnormal intra- and extralysosomal glycogen deposition as well as impaired cellular function and autophagy. Age at manifestation and severity of disease depend on residual enzyme activity. Enzyme replacement therapy (ERT) is available since 2006. In infantile onset Pompe disease, the most severe form, markedly prolonged survival has resulted in a new phenotype with symptoms and problems not encountered previously. In addition, it became apparent that antibody formation against the recombinant human enzyme may adversely affect the response to ERT. This review summari…
Clinical guidelines for diagnosing and managing ocular manifestations in children with mucopolysaccharidosis.
2011
The mucopolysaccharidoses (MPS) are a group of rare lysosomal storage disorders characterized by the accumulation of glycosaminoglycans in several tissues and organs. This accumulation results in an array of clinical manifestations and premature death in severe cases. Ocular problems are very common in children with MPS and may involve the cornea, sclera, trabecular meshwork, retina, optic nerve and also the posterior visual pathways. The aims of this study are to give an overview of ocular problems in MPS and to provide clinical guidelines for paediatric ophthalmologists for early diagnosis and management of ocular manifestations in children with MPS. Diagnostic problems may arise in child…
Future hypernuclear physics at MAMI-C and PANDA-GSI
2005
Hypernuclei represent the first steps towards an extension of the periodic system into the sector of strangeness and thus add a third dimension to our evolving picture of nuclei. They provide a large variety of new and exciting perspectives ranging from new dynamical symmetries in hypernuclei spectra, non-mesonic weak decays, and the interplay of the quark-exchange and meson-exchange aspects of strong baryon–baryon forces in the flavor SU(3) world. Furthermore, double hypernuclei may provide a doorway towards exotic quark states. In the near future, electroproduction experiments at TJNAF and MAMI-C will add more detailed information on the structure of single hypernuclei states. On the long…
Comparative Chemical Compositions of Fresh and Stored Vesuvian PDO "Pomodorino Del Piennolo" Tomato and the Ciliegino Variety
2018
The Vesuvian Piennolo cherry tomato (Lycopersicon esculentum Miller) (PdP) is an old and typical variety grown in the Campania region (Italy). PdP is referred to as a long-storage tomato due to its thick and coriaceous skin that allows long post-harvest storage and it has been granted Protected Designation of Origin (PDO) status since 2009. In this study, the chemical composition, focusing in particular on organic acids, antioxidant molecules and volatile compounds, were investigated in PdP and compared to another typical variety in Campania, the Ciliegino tomato (CIL). Chemical characterization was evaluated for both the CIL and PdP varieties during storage in the same environmental condit…
Predicting and Tuning Physicochemical Properties in Lead Optimization: Amine Basicities
2007
This review describes simple and useful concepts for predicting and tuning the pK(a) values of basic amine centers, a crucial step in the optimization of physical and ADME properties of many lead structures in drug-discovery research. The article starts with a case study of tricyclic thrombin inhibitors featuring a tertiary amine center with pK(a) values that can be tuned over a wide range, from the usual value of around 10 to below 2 by (remote) neighboring functionalities commonly encountered in medicinal chemistry. Next, the changes in pK(a) of acyclic and cyclic amines upon substitution by fluorine, oxygen, nitrogen, and sulfur functionalities, as well as carbonyl and carboxyl derivativ…