A 12-year-old neutered male pug suffered cardiac arrest and died under general anaesthesia during diagnostic imaging for evaluation of exercise intolerance and respiratory crisis. Histopathological evaluation revealed two types of storage material, glycolipid and lipopigment, having differential distributions in multiple organs. The heart was most strikingly affected and other less affected tissues included the liver, brain, kidneys and skin. Cardiomyocytes were swollen with extensive sarcoplasmic vacuolation together with coalescing areas of myocardial fibrosis. Transmission electron microscopy revealed irregular myelin-like structures and complex concentric lamellar bodies dominating the sarcoplasm and displacing myofibrils. These findings were consistent with a lysosomal storage disease (LSD) as the cause of cardiac disease and death. The unique clinical presentation, histomorphology and ultrastructural features of the material suggested a glycolipid storage disease most closely resembling Anderson–Fabry (Fabry) disease in man. Fabry disease is a LSD that can present in later life and is characterized by loss of α-galactosidase A function and, often, accumulation of glycosphingolipids in tissues including the heart, kidneys, vascular endothelium and smooth muscle.

Late blight caused by Phytophthora infestans (Mont.) de Bary remains the greatest potential disease in the Romanian potato crop. Late blight can destroy foliage prematurely and in a very short time, reducing production, while the tuber infections associated with rots can cause important crop losses during storage. There are years when the disease is epidemic, causing great loss of production and have a negative effect on the quality of tubers, making more difficult the processing and the storage. The current European legislation requires from member states to promote a policy of disease control using less chemicals in an integrated plant protection management.

Glycogen storage disease (GSD) type IXa is caused by PHKA2 mutation, which accounts for about 75% of all the GSD type IX cases. Here we first summarized the clinical data and analyzed the PHKA2 gene of 17 Chinese male patients suspected of having GSD type IXa. Clinical symptoms of our patients included hepatomegaly, growth retardation, and liver dysfunction. The clinical and biochemical manifestations improved and even disappeared with age. We detected 14 mutations in 17 patients, including 8 novel mutations; exons 2 and 4 were hot spots in this research. In conclusion, glycogen storage disease type IXa is a mild disorder with a favorable prognosis, and there was no relationship between genotype and phenotype of this disease.

Pompe disease (acid alpha-glucosidase deficiency, OMIM 232300) is a rare lysosomal storage disorder due to autosomal recessive mutations in the GAA gene. It has also been called acid maltase deficiency and glycogen storage disease type II. There is a broad clinical presentation: the most severe form that presents in the first few months of life with cardiomyopathy and generalized muscle weakness that rapidly progresses to death from cardio-respiratory failure in the first year of life (infant-onset Pompe disease). A more slowly progressive disease, with little or no cardiac involvement, presents with proximal myopathy and/or pulmonary insufficiency, from the second year of life to late adulthood (late-onset Pompe disease). The recent development and introduction of enzyme replacement therapy with intravenous infusion of recombinant human acid alpha-glucosidase have made a major improvement in the morbidity and mortality of this disease. New therapies are also in development. With the availability of treatment, diagnostic methods have also improved, allowing for earlier recognition and potential early therapeutic intervention. The advent of newborn screening for Pompe disease may identify patients who can be treated before significant irreversible disease has occurred.

Pompe disease is a lysosomal storage disorder caused by acid-a-glucosidase (GAA) deficiency, leading to glycogen storage. The disease manifests as a fatal cardiomyopathy in infantile form. Enzyme replacement therapy (ERT) has recently prolonged the lifespan of these patients, revealing a new natural history. The neurologic phenotype and the persistence of selective muscular weakness in some patients could be attributed to the central nervous system (CNS) storage uncorrected by ERT. GAA-KO 6neo/6neo mice were treated with a single intrathecal administration of adeno-associated recombinant vector (AAV) mediated gene transfer of human GAA at 1 month and their neurologic, neuromuscular, and cardiac function was assessed for 1 year. We demonstrate a significant functional neurologic correction in treated animals from 4 months onward, a neuromuscular improvement from 9 months onward, and a correction of the hypertrophic cardiomyopathy at 12 months. The regions most affected by the disease i.e. the brainstem, spinal cord, and the left cardiac ventricular wall all show enzymatic, biochemical and histological correction. Muscle glycogen storage is not affected by the treatment, thus suggesting that the restoration of muscle functionality is directly related to the CNS correction. This unprecedented global and long-term CNS and cardiac cure offer new perspectives for the management of patients.

International audience | Pompe disease is a lysosomal storage disorder caused by acid-a-glucosidase (GAA) deficiency, leading to glycogen storage. The disease manifests as a fatal cardiomyopathy in infantile form. Enzyme replacement therapy (ERT) has recently prolonged the lifespan of these patients, revealing a new natural history. The neurologic phenotype and the persistence of selective muscular weakness in some patients could be attributed to the central nervous system (CNS) storage uncorrected by ERT. GAA-KO 6neo/6neo mice were treated with a single intrathecal administration of adeno-associated recombinant vector (AAV) mediated gene transfer of human GAA at 1 month and their neurologic, neuromuscular, and cardiac function was assessed for 1 year. We demonstrate a significant functional neurologic correction in treated animals from 4 months onward, a neuromuscular improvement from 9 months onward, and a correction of the hypertrophic cardiomyopathy at 12 months. The regions most affected by the disease i.e. the brainstem, spinal cord, and the left cardiac ventricular wall all show enzymatic, biochemical and histological correction. Muscle glycogen storage is not affected by the treatment, thus suggesting that the restoration of muscle functionality is directly related to the CNS correction. This unprecedented global and long-term CNS and cardiac cure offer new perspectives for the management of patients.

Solid formulations of indigenous rhizobacteria Bacillus thuringiensis TS2 and storage time to control bacterial pustule disease Xanthomonas axonopodis pv. glycines. Bacterial pustule disease caused by Xanthomonas axonopodis pv. Glycines is a major constraint in soybean cultivation. Indigenous rhizobacteria Bacillus thuringiensis TS2 from soybean rhizosphere acquired from previous research is the best isolate which can control soybean bacterial pustule disease and increase growth rate of soybean. To increased its stability and interaction with soybean plants, Bacillus thuringiensis TS2 was urged to test furthermore especially its formulation with based formula tapioca powder, peat and bulk. The most effective storage time also need to test. Result showed that all rhizobacterial formula had ability to decrease incidence of bacterial pustule disease compared to control. Moreover, all the three formula could increase plant growth, total of leaves, total of branch and yields. Flowering time was also advanced by 1-8 days compared to control. Decreasing of disease rate and increasing of plant growth rate variated between different formulations.

Glucogenosis type IX is caused by pathogenic variants of the PHKA2 gene. Herein, we report a patient with clinical symptoms compatible with Glycogen Storage Disease type IXa. PYGL, PHKA1, PHKA2, PHKB and PHKG2 genes were analyzed by Next Generation Sequencing (NGS). We identified the previously undescribed hemizygous missense variant NM_000292.2(PHKA2):c.1963G>A, p.(Glu655Lys) in PHKA2 exon 18. In silico analyses showed two possible pathogenic consequences: it affects a highly conserved amino acid and disrupts the exon 18 canonical splice donor site. The variant was found as a “de novo” event.

BACKGROUND: Nitric oxide (NO) is a multifunctional signaling molecule involved in plant‐induced resistance to disease. The present study aimed to investigate the relationship between disease resistance induced by NO and the phenylpropanoid pathway in peach fruit. The present study investigated the effect of NO on the main enzymes and metabolites of the phenylpropanoid pathway of harvested peach, which are probably related to disease resistance against Monilinia fructicola. RESULTS: The results showed that treatment with 15 µmol L⁻¹ NO significantly (P < 0.05) enhanced the activities of phenylalanine ammonia‐lyase, cinnamate‐4‐hydroxylase, 4‐coumaroyl‐CoA ligase, chalcone synthase and chalcone isomerase and the expression of their genes. Furthermore, NO treatment significantly (P < 0.05) increased the contents of total phenolics, flavonoids and lignin over the entire storage period and maintained higher total anthocyanin, phenolic acid and anthocyanin contents during the earlier storage period. CONCLUSION: These results suggest that NO treatment could activate the phenylpropanoid pathway to enhance the activity of related enzymes and the contents of phenylpropanoid metabolites in peach to improve disease resistance and prevent pathogenic invasion. © 2016 Society of Chemical Industry

The effects of nitric oxide (NO) treatment on quality and disease resistance of kiwifruit (Actinidia deliciosa) cv. ‘Bruno’ were investigated after the fruits were immersed in 0.2mM sodium nitroprusside or water (as control) for 10min and then stored at room temperature. NO treatment reduced diseases incidence; delayed the increase in soluble solid content and the loss of vitamin C (Vc); increased the activities phenylalanine ammonialyase (PAL), peroxidase (POD), and β-1,3-glucanase, with accompanying up-regulation of PAL, POD and chitinase (CHT) expression; and elevated the level of total phenolics, flavonoids, hydroxyproline-rich glycoprotein, and lignin during storage. Thus, NO treatment was beneficial to the maintenance of fruit quality and improvement of disease resistance of kiwifruit during storage.