Search results for "GLYCOGEN"
showing 10 items of 189 documents
"Bull’s eye” appearance of hepatocellular adenomas in patients with glycogen storage disease type I — atypical magnetic resonance imaging findings: T…
2021
BACKGROUND Hepatocellular adenomas are rare tumors that can occur in patients with glycogen storage disease type I. CASE SUMMARY We herein report two cases of histologically proven hepatocellular adenomas in patients with glycogen storage disease type I. Magnetic resonance imaging (MRI) was performed after bolus injection of gadoxetate disodium, a liver-specific gadolinium-based MRI contrast agent. In the present cases, some of the hepatocellular adenomas showed unexpectedly a “bull’s eye” appearance on T2-weighted and post-contrast images, which was not previously described as imaging findings of hepatocellular adenomas in glycogen storage disease. A bull’s eye appearance on T2-weighted im…
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, …
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…
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…
Pentachlorophenol accumulation in the freshwater mussels Anodonta anatina and Pseudanodonta complanata, and some physiological consequences of labora…
1995
Freshwater mussels Anodanta anatina and Pseudanodonta complanata were exposed to (14C)-pentachlorophenol. The wet weight based bioconcentration factor (BCF = activity in animal per activity in water) at steady state varied from 80 to 120 for A. anatina and from 61 to 85 for P. complanata. The species did not differ significantly in their wet weight or lipid based BCFs but dry weight based values were significantly higher (40-50%) for A. anatina. The soft tissue dry weight and dry weight based condition index of A. anatina (Cl4 = soft tissue dry weight per shell length) differed significantly between natural mussel populations. In animals kept from 4 to 8 months in laboratory conditions, the…
�ber die Dissoziation von Funktion und Stoffwechsel des isolierten Meerschweinchenherzens unter dem Einflu� von Phosphodiesterase-Hemmstoffen
1970
The influence of several phosphodiesterase-blocking agents on some mechanical and metabolic parameters of isolated perfused guinea pig hearts was studied in order to reinvestigate the repeatedly demonstrated close correlation between these functions. 1. In concentrations which caused 50% inhibition of the phosphodiesterase, theophyllin (1.8×10−4M), ethacrynic acid (4×10−4M) and papaverine (1×10−5M) produced positive inotropic effects by increasing the rate of contraction of the heart muscle (dp/dt). The other substances tested, furosemide (5×10−4M) and hydrochlorothiazide (1.5×10−3M), did not significantly influence the mechanical function of the hearts (Fig.1, upper chart). 2. The coronary…
Pho85 and PI(4,5)P(2) regulate different lipid metabolic pathways in response to cold
2019
Lipid homeostasis allows cells to adjust membrane biophysical properties in response to changes in environmental conditions. In the yeast Saccharomyces cerevisiae, a downward shift in temperature from an optimal reduces membrane fluidity, which triggers a lipid remodeling of the plasma membrane. How changes in membrane fluidity are perceived, and how the abundance and composition of different lipid classes is properly balanced, remain largely unknown. Here, we show that the levels of phosphatidylinositol 4,5-bisphosphate [PI(4,5)P2], the most abundant plasma membrane phosphoinositide, drop rapidly in response to a downward shift in temperature. This change triggers a signaling cascade trans…
Activation of MAPK homologues by elicitors in tobacco cells
1998
International audience; Elicitors of plant defence reactions (such as cryptogein, an elicitin produced by Phytophthora cryptogea, or oligogalacturonides (OGs)), induced in tobacco cell suspensions (Nicotiana tabacum var Xanthi) a rapid and transient activation of two protein kinases (PKs) with apparent molecular masses of 50 and 46 kDa, respectively. These PKs activated and phosphorylated at tyrosine residues, phosphorylated myelin basic protein (MBP) at serine/threonine residues. Both are recognized by anti-MAPK antibodies. The two MBP kinases possessed the same kinetics of activation, and their activation depended, to the same extent, on different exogenously applied compounds (staurospor…
An interesting question of Pompe disease. A case report
2006
Glycogenosis type II or Pompe disease is an inherited autosomal recessive disorder known in 3 different clinical forms (infantile, juvenile and adult). We report on a case diagnosed as a classic infantile form with the worst outcome of all 3 described, if we had followed and executed a correct and complete diagnostic pathway. A 7 months old female child was admitted for fever and dyspnoea. At chest auscultation weepings and weezings were found; on the cardiac apex a murmur due to mitralic failure was retrieved. The thorax X-ray showed a greatly increased heart shadow with a cardiothoracic index of 0.75. ECG showed high voltages and signs of bilateral ventricular hypertrophy. Cardiac ultraso…