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https://www.readbyqxmd.com/read/27816333/ischemic-stroke-due-to-hypoperfusion-in-a-patient-with-a-previously-unrecognized-danon-disease
#1
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...
October 5, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/26850346/baicalin-attenuates-high-fat-diet-induced-insulin-resistance-and-ectopic-fat-storage-in-skeletal-muscle-through-modulating-the-protein-kinase-b-glycogen-synthase-kinase-3-beta-pathway
#2
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
https://www.readbyqxmd.com/read/26834550/the-ever-changing-morphology-of-hippocampal-granule-neurons-in-physiology-and-pathology
#3
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
https://www.readbyqxmd.com/read/26481417/lactate-and-its-many-faces
#4
REVIEW
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
https://www.readbyqxmd.com/read/26385640/a-novel-mouse-model-that-recapitulates-adult-onset-glycogenosis-type-4
#5
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
https://www.readbyqxmd.com/read/26212261/impairment-of-liver-glycogen-storage-in-the-db-db-animal-model-of-type-2-diabetes-a-potential-target-for-future-therapeutics
#6
REVIEW
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
https://www.readbyqxmd.com/read/26032558/minimally-symptomatic-mcardle-disease-expanding-the-genotype-phenotype-spectrum
#7
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
https://www.readbyqxmd.com/read/25991023/myocardial-anp-expression-in-pompe-s-disease-an-immunohistochemical-study
#8
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
https://www.readbyqxmd.com/read/25881750/the-lactate-receptor-g-protein-coupled-receptor-81-hydroxycarboxylic-acid-receptor-1-expression-and-action-in-brain
#9
REVIEW
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
https://www.readbyqxmd.com/read/25658411/-25-year-old-patient-with-angina-pectoris-during-religious-fasting
#10
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
https://www.readbyqxmd.com/read/25566347/diffuse-cerebral-microhemorrhages-in-a-patient-with-adult-onset-pompe-s-disease-a-case-report
#11
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
https://www.readbyqxmd.com/read/25045239/the-significance-of-clinical-and-laboratory-features-in-the-diagnosis-of-glycogen-storage-disease-type-v-a-case-report
#12
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
https://www.readbyqxmd.com/read/24683476/continuous-glucose-monitoring-in-the-treatment-of-obesity-in-patients-with-glycogen-storage-disease-type-ia
#13
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
https://www.readbyqxmd.com/read/24603714/fatty-acid-binding-protein-4-and-5-play-a-crucial-role-in-thermogenesis-under-the-conditions-of-fasting-and-cold-stress
#14
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
https://www.readbyqxmd.com/read/24573165/proteome-based-systems-biology-analysis-of-the-diabetic-mouse-aorta-reveals-major-changes-in-fatty-acid-biosynthesis-as-potential-hallmark-in-diabetes-mellitus-associated-vascular-disease
#15
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
https://www.readbyqxmd.com/read/24558105/inducible-metabolic-adaptation-promotes-mesenchymal-stem-cell-therapy-for-ischemia-a-hypoxia-induced-and-glycogen-based-energy-prestorage-strategy
#16
Hongming Zhu, Aijun Sun, Yunzeng Zou, Junbo Ge
OBJECTIVE: Ischemic tissue is an environment with limited oxygen and nutrition availability. The poor retention of mesenchymal stem cells (MSC) in ischemic tissues greatly limits their therapeutic potential. The aim of this study was to determine whether and how inducible metabolic adaptation enhances MSC survival and therapy under ischemia. APPROACH AND RESULTS: MSC were subjected to glycogen synthase 1-specific small interfering RNA or vehicle treatment, and then sublethal hypoxic preconditioning (HP) was applied to induce glycogenesis...
April 2014: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/24380807/adult-polyglucosan-body-disease-in-a-patient-originally-diagnosed-with-fabry-s-disease
#17
A Sagnelli, M Savoiardo, C Marchesi, L Morandi, M Mora, M Morbin, L Farina, A Mazzeo, A Toscano, S Pagliarani, S Lucchiari, G P Comi, E Salsano, D Pareyson
Adult polyglucosan body disease is a rare autosomal recessive disease, caused by glycogen branching enzyme gene mutations, characterised by urinary dysfunction, spastic paraplegia with vibration sense loss, peripheral neuropathy, and cognitive impairment. Fabry's disease is an X-linked lysosomal storage disorder caused by α-galactosidase A gene mutations; neurological manifestations include cerebrovascular accidents, small-fibre neuropathy and autonomic dysfunction. Here, we report the case of a 44-year-old Sicilian male with stroke-like episodes, hypohidrosis and mild proteinuria, which led to the diagnosis of Fabry's disease after a hemizygous mutation (p...
March 2014: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/24357677/epilepsy-and-electrophysiological-findings-in-polish-twins-with-glycogenosis-type-iiib
#18
Sławomir Kroczka, Agnieszka Biedroń, Marek Kaciński
Glycogen storage diseases are rare genetic disorders, mostly autosomal recessively inherited. Abnormal accumulation is because of the lack of one of the enzymes involved in glycogen metabolism. Neurological manifestation of the diseases involves muscle weakness and hypoglycemia-induced seizures. In this article, we present a history of twin sisters with unusual coincidence of glycogenosis type IIIb and epilepsy. Hypoglycemic background of seizures and organic changes of the central nervous system were excluded...
July 2014: Clinical EEG and Neuroscience: Official Journal of the EEG and Clinical Neuroscience Society (ENCS)
https://www.readbyqxmd.com/read/24011984/-exercise-induced-muscle-pain-due-to-phosphofrutokinase-deficiency-diagnostic-contribution-of-metabolic-explorations-exercise-tests-31p-nuclear-magnetic-resonance-spectroscopy
#19
A Drouet, F Zagnoli, T Fassier, F Rannou, F Baverel, M Piraud, M Bahuau, F Petit, N Streichenberger, P Marcorelles, D Vital Durand
INTRODUCTION: Muscle phosphofructokinase deficiency, the seventh member of the glycogen storage diseases family, is also called Tarui's disease (GSD VII). METHODS: We studied two patients in two unrelated families with Tarui's disease, analyzing clinical features, CK level, EMG, muscle biopsy findings and molecular genetics features. Metabolic muscle explorations (forearm ischemic exercise test [FIET]; bicycle ergometer exercise test [EE]; 31P-nuclear magnetic resonance spectroscopy of calf muscle [31P-NMR-S]) are performed as appropriate...
August 2013: Revue Neurologique
https://www.readbyqxmd.com/read/23852624/burden-of-lysosomal-storage-disorders-in-india-experience-of-387-affected-children-from-a-single-diagnostic-facility
#20
Jayesh Sheth, Mehul Mistri, Frenny Sheth, Raju Shah, Ashish Bavdekar, Koumudi Godbole, Nidhish Nanavaty, Chaitanya Datar, Mahesh Kamate, Nrupesh Oza, Chitra Ankleshwaria, Sanjeev Mehta, Marie Jackson
Lysosomal storage disorders (LSDs) are considered to be a rare metabolic disease for the national health forum, clinicians, and scientists. This study aimed to know the prevalence of different LSDs, their geographical variation, and burden on the society. It included 1,110 children from January 2002 to December 2012, having coarse facial features, hepatomegaly or hepatosplenomegaly, skeletal dysplasia, neuroregression, leukodystrophy, developmental delay, cerebral-cerebellar atrophy, and abnormal ophthalmic findings...
2014: JIMD Reports
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