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(glycogen storage disease OR GSD ) AND (stroke OR ischemic OR cerebral OR ischemia OR atherosclerosis OR hyperlipidaemia)

N V Polenova, T V Strokova, A V Starodubova
Glycogen storage disease (GSD) is an inherited metabolic disorder characterized by early childhood lipid metabolic disturbances with potentially proatherogenic effects. The review outlines the characteristics of impaired lipid composition and other changes in the cardiovascular system in GSD types I and III. It analyzes the factors enabling and inhibiting the development of atherosclerosis in patients with GSD. The review describes the paradox of vascular resistance to the development of early atherosclerosis despite the proatherogenic composition of lipids in the patients of this group...
2017: Terapevticheskiĭ Arkhiv
Mehmet Öztürk, İsmail Akdulum, Nurullah Dağ, Ahmet Sığırcı, Serdal Güngör, Sezai Yılmaz
OBJECTIVE: To analyze the magnetic resonance imaging findings in children diagnosed with neurologic complications after liver transplantation (LT). MATERIALS AND METHODS: A total of 39 patients diagnosed with neurologic complications following LT between 2010 and 2016. Neuroradiologic imaging was performed using cranial magnetic resonance imaging (MRI). Descriptive statistics regarding age, gender, type of complication, diagnostic and therapeutic modalities were calculated and presented as number and percentage...
August 2017: La Radiologia Medica
M Carmen Crespo, Joao Tomé-Carneiro, Cristina Pintado, Alberto Dávalos, Francesco Visioli, Emma Burgos-Ramos
Recent epidemiological evidence demonstrated that diabetes is a risk factor for AD onset and development. Indeed, meta-analyses of longitudinal epidemiologic studies show that diabetes increases AD risk by 50-100%, being insulin resistance (IR) the main binding link between diabetes and AD. Astrocytes are the foremost cerebral macroglial cells and are responsible for converting glucose into lactate and transfer it to neurons that use it as fuel, but Aβ(1-42) impairs insulin signaling and glycogen storage. Recent prospective studies showed that the Mediterranean diet is associated with lower incidence of AD...
March 20, 2017: BioFactors
Can Ebru Bekircan-Kurt, Hafize Nalan Güneş, F Gokcem Yildiz, Esen Saka, Ersin Tan, Sevim Erdem-Özdamar
Pompe disease is a glycogen storage disease caused by acid alfa-glucosidase deficiency. Here, we report clinical properties, genetic features of our late-onset Pompe patients. Seven patients were followed during the last 10 years in our institute. The clinical and laboratory findings were reviewed. Neuropsychological evaluation was performed in four patients. Myotonic discharges of paraspinal muscles and denervation potentials were seen in all patients at the diagnosis and were disappeared during follow-up in two...
March 2017: Acta Neurologica Belgica
Matthias Boentert, Anca Florian, Bianca Dräger, Peter Young, Ali Yilmaz
BACKGROUND: Pompe disease is an autosomal recessive disorder caused by deficiency of the lysosomal α-1,4-glucosidase leading to accumulation of glycogen in target tissues with progressive organ failure. While the early infantile-onset form is characterized by early severe hypertrophic cardiomyopathy with cardiac and respiratory failure, clinically relevant cardiomyopathy seems to be uncommon in patients with late-onset Pompe disease, and the prevalence and nature of myocardial abnormalities are still to be clarified...
December 7, 2016: Journal of Cardiovascular Magnetic Resonance
Marco Marino, Olimpia Musumeci, Giuseppe Paleologo, Maria Cucinotta, Alba Migliorato, Carmelo Rodolico, Antonio Toscano
Danon disease, an X-linked multisystemic disorder, is due to deficiency of Lysosome-Associated Membrane Protein 2 (LAMP2). It is usually characterized by hypertrophic cardiomyopathy, mental retardation and skeletal myopathy, sometimes also with atypical features. A 20-year-old man with cognitive impairment was admitted to the Emergency Room because of a sudden chest pain. ECG showed Wolff-Parkinson-White syndrome; echocardiography revealed hypertrophic cardiomyopathy, and, shortly after, he experienced a cardiac arrest followed by an occipital ischemic stroke...
December 2016: Neuromuscular Disorders: NMD
You-Li Xi, Hong-Xia Li, Chen Chen, Ya-Qun Liu, Hong-Mei Lv, Shi-Qi Dong, Er-Fei Luo, Ming-Bo Gu, Hua Liu
Insulin resistance is the pathophysiological basis of many diseases. Overcoming early insulin resistance highly significant in prevention diabetes, non-alcoholic fatty liver, and atherosclerosis. The present study aimed at evaluating the therapeutic effects of baicalin on insulin resistance and skeletal muscle ectopic fat storage in high fat diet-induced mice, and exploring the potential molecular mechanisms. Insulin resistance in mice was induced with a high fat diet for 16 weeks. Animals were then treated with three different doses of baicalin (100, 200, and 400 mg·kg(-1)·d(-1)) for 14 weeks...
January 2016: Chinese Journal of Natural Medicines
María Llorens-Martín, Alberto Rábano, Jesús Ávila
Newborn neurons are continuously added to the hippocampal dentate gyrus throughout adulthood. In this review, we analyze the maturational stages that newborn granule neurons go through, with a focus on their unique morphological features during each stage under both physiological and pathological circumstances. In addition, the influence of deleterious (such as schizophrenia, stress, Alzheimer's disease, seizures, stroke, inflammation, dietary deficiencies, or the consumption of drugs of abuse or toxic substances) and neuroprotective (physical exercise and environmental enrichment) stimuli on the maturation of these cells will be examined...
2015: Frontiers in Neuroscience
Marjan Taher, Wilhelmina G Leen, Ron A Wevers, Michèl A Willemsen
BACKGROUND: Lactate is traditionally seen as a marker of ischemia and a waste product of anaerobic glycolysis. In the last thirty years a more beneficial side of lactate as an alternative 'glucose sparing' fuel has been demonstrated. However, the translation of these growing insights to clinical practice seems to appear with great delay. METHODS: A review of the literature was performed, focusing on glucose and lactate in relation to cerebral energy metabolism, in the context of four typical clinical situations, namely (transient states of) low glucose availability for the brain due to hypoglycemia, combined with high blood lactate concentrations; permanent neuroglycopenia; lactic acidosis in mitochondrial disorders; and ischemic as well as traumatic brain injury...
January 2016: European Journal of Paediatric Neurology: EJPN
H Orhan Akman, Valentina Emmanuele, Yasemin Gülcan Kurt, Bülent Kurt, Tatiana Sheiko, Salvatore DiMauro, William J Craigen
Glycogen storage disease type IV (GSD IV) is a rare autosomal recessive disorder caused by deficiency of the glycogen-branching enzyme (GBE). The diagnostic hallmark of the disease is the accumulation of a poorly branched form of glycogen known as polyglucosan (PG). The disease is clinically heterogeneous, with variable tissue involvement and age at onset. Complete loss of enzyme activity is lethal in utero or in infancy and affects primarily the muscle and the liver. However, residual enzyme activity as low as 5-20% leads to juvenile or adult onset of a disorder that primarily affects the central and peripheral nervous system and muscles and in the latter is termed adult polyglucosan body disease (APBD)...
December 1, 2015: Human Molecular Genetics
Mitchell A Sullivan, Brooke E Harcourt, Ping Xu, Josephine M Forbes, Robert G Gilbert
After the discovery of the db gene in 1966, it was determined that a blood-borne satiety factor was produced excessively, but was not responded to, in db/db mice. This model for type 2 diabetes is widely used since it phenocopies human disease and its co-morbidities including obesity, progressive deterioration in glucose tolerance, hypertension and hyperlipidaemia. Db/db mice, unlike their non-diabetic controls, have consistently elevated levels of liver glycogen, most likely due to hyperphagia. In transmission electron micrographs, liver glycogen usually shows a composite cauliflower-like morphology of large "α particles" (with a wide range of sizes) made up of smaller "β particles" bound together...
2015: Current Drug Targets
Petros Petrou, Marios Pantzaris, Maria Dionysiou, Anthi Drousiotou, Theodoros Kyriakides
INTRODUCTION: We report the clinical, biochemical, and molecular findings in a Cypriot family with minimally symptomatic McArdle disease. METHODS: Myophosphorylase in muscle was assessed by histochemistry, quantitative spectrophotometry, and western blot analysis. Mutation identification was performed by PCR amplification of all PYGM exons, followed by bidirectional sequencing. Screening for the new mutation was performed by restriction enzyme analysis. RESULTS: We found that a novel c...
November 2015: Muscle & Nerve
L A Benvenuti, M de Lourdes Higuchi, V D Aiello, M M Reis
The expression of atrial natriuretic peptide (ANP) was analyzed in the atrial and ventricular myocardium in three cases of Pompe's disease (glycogen storage disease of the myocardium), using an immunoperoxidase technique. The cytoplasm of almost all atrial myocytes and some subendocardial myocytes from the right and left ventricles were ANP-positive, excluding the typical central vacuole, which was occupied by glycogen. Ventricular ANP expression was usually more prominent in left ventricular samples, and its distribution was similar to that described in dilated, hypertrophic, restrictive, or ischemic heart disease; however, the enlargement of the myocytes in Pompe's disease is not caused by hypertrophy...
October 1994: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
Cecilie Morland, Knut Husø Lauritzen, Maja Puchades, Signe Holm-Hansen, Krister Andersson, Albert Gjedde, Håvard Attramadal, Jon Storm-Mathisen, Linda Hildegard Bergersen
We have proposed that lactate is a "volume transmitter" in the brain and underpinned this by showing that the lactate receptor, G-protein-coupled receptor 81 (GPR81, also known as HCA1 or HCAR1), which promotes lipid storage in adipocytes, is also active in the mammalian brain. This includes the cerebral neocortex and the hippocampus, where it can be stimulated by physiological concentrations of lactate and by the HCAR1 agonist 3,5-dihydroxybenzoate to reduce cAMP levels. Cerebral HCAR1 is concentrated on the postsynaptic membranes of excitatory synapses and also is enriched at the blood-brain barrier...
July 2015: Journal of Neuroscience Research
C A Huber, G Wunderlich, A Brunn, T Blau, G R Fink, H C Lehmann
UNLABELLED: HISTORY AND PRESENTATION AT ADMISSION: A 25-year-old male patient presented with acute left sided chest pain. The patient reported no physical exercise but daytime fasting (with neither food nor liquid intake) which he had started several days before. INVESTIGATIONS: ECG, echocardiography and chest X-ray were normal, but blood examination revealed elevated levels for creatine kinase (CK) and lactate dehydrogenase (LDH). Ischemic lactate ammonia test revealed no increase of lactate during exercise...
February 2015: Deutsche Medizinische Wochenschrift
Divyajot Sandhu, Adam Rizvi, Jae Kim, Rwoof Reshi
BACKGROUND: Pompe's disease is a glycogen storage disease that manifests as progressive neuropathy, and myopathy. There are a few reports of vasculopathy in this disease, thought to be from small- and medium-vessel arteriopathy. We present a case of late-onset Pompe's disease with microhemorrhages and review of the pertinent literature. METHODS: We describe a case of microhemorrhages in a patient with known late-onset Pompe's disease. RESULTS: Our patient was noted to have numerous microhemorrhages concentrated in the posterior circulation distribution in what can best be described as central microhemorrhages, distinct from the pattern seen in amyloid angiopathy...
December 2014: Journal of Vascular and Interventional Neurology
Hyung Jun Park, Ha Young Shin, Yu Na Cho, Seung Min Kim, Young-Chul Choi
Glycogen storage disease type V (GSD-V) is the most common disorder of muscle glycogenosis with characteristic clinical and laboratory findings. A 32-yr-old woman complained of exercise intolerance and myoglobulinuria since early adolescence. She reported several episodes of second-wind phenomenon. Physical examination did not show any neurological abnormality, including fixed muscle weakness or atrophy. Serum creatine kinase level was 1,161 IU/L at rest. The result of the non-ischemic forearm exercise test was compatible with GSD-V...
July 2014: Journal of Korean Medical Science
Betty Korljan Jelaska, Sanja Baršić Ostojić, Nina Berović, Višnja Kokić
UNLABELLED: Glycogen storage disease (GSD) type I is characterized by impaired production of glucose from glycogenolysis and gluconeogenesis resulting in severe hypoglycaemia and increased production of lactic acid, triglyceride and uric acid. The most common type, glycogenosis type Ia, demands a balanced, sufficient carbohydrate intake to preserve normal 24-h glycaemia. Insufficient intake of carbohydrates can cause hypoglycaemia, as the missing glucose-6-phosphatase enzyme cannot free the glucose stored as liver glycogen and nor is gluconeogenesis possible...
2013: Endocrinology, Diabetes & Metabolism Case Reports
Mas Rizky A A Syamsunarno, Tatsuya Iso, Aiko Yamaguchi, Hirofumi Hanaoka, Mirasari Putri, Masaru Obokata, Hiroaki Sunaga, Norimichi Koitabashi, Hiroki Matsui, Kazuhisa Maeda, Keigo Endo, Yoshito Tsushima, Tomoyuki Yokoyama, Masahiko Kurabayashi
Hypothermia is rapidly induced during cold exposure when thermoregulatory mechanisms, including fatty acid (FA) utilization, are disturbed. FA binding protein 4 (FABP4) and FABP5, which are abundantly expressed in adipose tissues and macrophages, have been identified as key molecules in the pathogenesis of overnutrition-related diseases, such as insulin resistance and atherosclerosis. We have recently shown that FABP4/5 are prominently expressed in capillary endothelial cells in the heart and skeletal muscle and play a crucial role in FA utilization in these tissues...
2014: PloS One
Holger Husi, Tom Van Agtmael, William Mullen, Ferdinand H Bahlmann, Joost P Schanstra, Antonia Vlahou, Christian Delles, Paul Perco, Harald Mischak
BACKGROUND: Macrovascular complications of diabetes mellitus are a major risk factor for cardiovascular morbidity and mortality. Currently, studies only partially described the molecular pathophysiology of diabetes mellitus-associated effects on vasculature. However, better understanding of systemic effects is essential in unraveling key molecular events in the vascular tissue responsible for disease onset and progression. METHODS AND RESULTS: Our overall aim was to get an all-encompassing view of diabetes mellitus-induced key molecular changes in the vasculature...
April 2014: Circulation. Cardiovascular Genetics
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