Glycogen storage disease Ib is an inborn error of carbohydrate metabolism leading to impaired glycogenolysis and gluconeogenesis. Cardinal symptoms include fasting hypoglycemia, lactic acidosis and hepatomegaly as well as neutropenia. We report for the first time on the development of liver cirrhosis in a nine-year-old boy in the course of glycogen storage disease Ib and discuss possible underlying pathomechanisms.

Jasmonic acid (JA) treatment significantly reduces rot due to several sugarbeet (Beta vulgaris L.) storage pathogens. However, the mechanisms by which JA protects postharvest sugarbeet roots from disease are unknown. In other plant species and organs, alterations in antioxidant defense mechanisms and elevations in common pathogenesis-related defense enzymes have been implicated in jasmonate-induced disease resistance. To investigate whether these mechanisms are involved in JA-induced disease resistance in stored sugarbeet roots, the activities of several reactive oxygen species (ROS)-scavenging and pathogenesis-related defense enzymes and the total concentration of antioxidant compounds were determined in harvested sugarbeet roots in the 60 d following treatment with JA. ROS-scavenging and pathogenesis-related defense enzymes and the concentration of antioxidant compounds were largely unaffected by JA as JA-treated roots exhibited small declines in superoxide dismutase (SOD) and chitinase activities, and were generally unaltered in ascorbate peroxidase (APX), catalase (CAT), peroxidase (POD), β-1,3-glucanase (β-Gluc), polyphenol oxidase (PPO) and phenylalanine ammonia-lyase (PAL) activities or antioxidant compounds concentration. The lack of increase in enzyme activities or metabolites related to defense against oxidative stress or pathogens suggests that JA-induced disease resistance in postharvest sugarbeet roots does not arise from a direct increase in any of the ROS-scavenging and defense-related enzymes examined, or the concentration of total antioxidant compounds. However, ROS-scavenging enzymes and pathogenesis-related defense enzymes were affected by storage duration with POD, SOD, β-Gluc, chitinase, and PPO activities elevated and APX and CAT activities reduced in roots stored for 10 d or more. Storage-related changes in activities of ROS-scavenging enzymes and defense-related enzymes provide further evidence that these enzymes are uninvolved in sugarbeet root disease resistance during storage since many of these enzymes increased in activity after prolonged storage when disease resistance generally declines.

There is a strong association between lysosome enzyme deficiencies and monogenic disorders resulting in lysosomal storage disease. Of the more than 75 characterized lysosomal proteins, two thirds are directly linked to inherited diseases of metabolism. Only one lysosomal storage disease, Niemann–Pick disease, is associated with impaired phospholipid metabolism. However, other phospholipases are found in the lysosome but remain poorly characterized. A recent exception is lysosomal phospholipase A2 (group XV phospholipase A2). Although no inherited disorder of lysosomal phospholipid metabolism has yet been associated with a loss of function of this lipase, this enzyme may be a target for an acquired form of lysosomal storage, drug induced phospholipidosis. This article is part of a Special Issue entitled Phospholipids and Phospholipid Metabolism.

A 14-mo-old South American coati (Nasua nasua) was submitted for necropsy to the University of Kentucky Veterinary Diagnostic Laboratory. The coati had a history of progressive neurologic signs beginning 3 mo prior to euthanasia. At necropsy, the coati was in thin body condition, but no other significant findings were evident. Histopathologic findings included moderate distension of neuronal cell bodies by finely vesiculated cytoplasm within the cerebrum, cerebellum, spinal cord, and intestinal ganglia. Hepatocytes and macrophages in the lung, spleen, and liver were similarly affected. Transmission electron microscopy showed numerous electron-dense membranous cytoplasmic bodies, swirls, and vesicular profiles within neuronal lysosomes in the brain. To the authors' knowledge, this is the first report of a naturally occurring congenital glycogen storage disease in a South American coati and the family Procyonidae.

Anthracnose (Colletotrichum gloeosporioides) is an important disease infecting fleshy fruits. The efficacy of chitosan to suppress C. gloeosporioides infection and its ability to increase the length of fruit storage was evaluated. C. gloeosporioides was isolated and purified from mature papaya. Chitosan was mixed in the potato dextrose agar, and sprayed on the surface of papaya fruit with the concentration of 0.05, 0.1, 0.25, 0.5, 0.75 and 1%. It showed that chitosan concentration of 0.75-1% inhibited C. gloeosporioides growth in vitro up to 72.17-85.21%. Application of chitosan on fruit at concentration of 0.25% suppressed the disease incidence and severity; whereas chitosan concentration of 0.75% was able to suppress the disease incidence, severity, and increase the length of fruit storage twice longer than control. Key words: anthracnose, chitosan, Colletotrichum gloeosporioides, papaya, the length of storage.

Onion is one of the important vegetable crops of India. In Karnataka state, onion farmers are facing severe postharvest losses due to infection of Colletotrichum circinans. The bulbs get infected in field and start rotting when carried to the storage units for drying. Since the infection is from field fungus which infects just prior to harvest and aggravate disease during storage, an experiment was conducted at the Horticulture Research Station Devihosur, Haveri, India, to minimize the losses in onion due to pre- and postharvest smudge by practicing fungicidal spray in the field before harvest. Seven different fungicides were tried to manage the disease. The results revealed that spraying of hexaconazole (0.1%), difenconazole (0.1%) and kresoxim methyl (0.1%) have given best control of the disease in field as well as in storage. Normally onions are given fungicidal sprays at 30 and 60 days after sowing. However, in the present study it was found that spraying fungicides at 40, 60 and 80 days after sowing were found effective. As onion is normally harvested after 90 days of sowing, spraying of fungicides especially at 80 days after sowing found to minimise infection carried to storage which intern recorded significantly least smudge in storage.

Postharvest diseases can cause considerable damage to harvested fruit in controlled atmosphere storage. Since there is a large cost associated with opening the storage rooms, regular assessment of damage levels is not feasible, and many experts agree on the need for a reliable predictive model. Presented here is a simulation model that predicts the overall incidence of disease in a bin of stored fruit as a function of initial infection levels and the fruit's susceptibility to fungal attack. Uninfected fruit tissue, infected fruit tissue, and fungal growth are modelled by a system of three ordinary differential equations. Simulations of the growth and spread of the pathogen in storage were conducted, with disease incidence measured monthly. The model provides insight into the dynamics of postharvest fungal disease, and forms the basis of a predictive model that could be used by packinghouses to determine how long a given crop of fruit can be stored before the infection risk rises above a predetermined tolerable level.

Autophagy dysfunction has been implicated in misfolded protein accumulation and cellular toxicity in several diseases. Whether alterations in autophagy also contribute to the pathology of lipid-storage disorders is not clear. Here, we show defective autophagy in Niemann-Pick type C1 (NPC1) disease associated with cholesterol accumulation, where the maturation of autophagosomes is impaired because of defective amphisome formation caused by failure in SNARE machinery, whereas the lysosomal proteolytic function remains unaffected. Expression of functional NPC1 protein rescues this defect. Inhibition of autophagy also causes cholesterol accumulation. Compromised autophagy was seen in disease-affected organs of Npc1 mutant mice. Of potential therapeutic relevance is that HP-β-cyclodextrin, which is used for cholesterol-depletion treatment, impedes autophagy, whereas stimulating autophagy restores its function independent of amphisome formation. Our data suggest that a low dose of HP-β-cyclodextrin that does not perturb autophagy, coupled with an autophagy inducer, may provide a rational treatment strategy for NPC1 disease.

Cardiac oxidative stress has been implicated in the pathogenesis of hypertrophy, cardiomyopathy and heart failure. Systemic deletion of the gene encoding adipose triglyceride lipase (ATGL), the enzyme that catalyzes the rate-limiting step of triglyceride lipolysis, results in a phenotype characterized by severe steatotic cardiac dysfunction. The objective of the present study was to investigate a potential role of oxidative stress in cardiac ATGL deficiency. Hearts of mice with global ATGL knockout were compared to those of mice with cardiomyocyte-restricted overexpression of ATGL and to those of wildtype littermates. Our results demonstrate that oxidative stress, measured as lucigenin chemiluminescence, was increased ~6-fold in ATGL-deficient hearts. In parallel, cytosolic NADPH oxidase subunits p67phox and p47phox were upregulated 4–5-fold at the protein level. Moreover, a prominent upregulation of different inflammatory markers (tumor necrosis factor α, monocyte chemotactant protein-1, interleukin 6, and galectin-3) was observed in those hearts. Both the oxidative and inflammatory responses were abolished upon cardiomyocyte-restricted overexpression of ATGL. Investigating the effect of oxidative and inflammatory stress on nitric oxide/cGMP signal transduction we observed a ~2.5-fold upregulation of soluble guanylate cyclase activity and a ~2-fold increase in cardiac tetrahydrobiopterin levels. Systemic treatment of ATGL-deficient mice with the superoxide dismutase mimetic Mn(III)tetrakis (4-benzoic acid) porphyrin did not ameliorate but rather aggravated cardiac oxidative stress. Our data suggest that oxidative and inflammatory stress seems involved in lipotoxic heart disease. Upregulation of soluble guanylate cyclase and cardiac tetrahydrobiopterin might be regarded as counterregulatory mechanisms in cardiac ATGL deficiency.

Postharvest decay, incited by various fungal pathogens, is a major concern in most blueberry production areas of the United States. Because the risk of infection is increased by fruit bruising, which in turn is increased by machine-harvesting, it has been difficult to harvest fruit from the early-maturing but soft-textured southern highbush blueberries (SHB) mechanically for the fresh market. This could change fundamentally with the recent development of SHB genotypes with crisp-textured (“crispy”) berries, i.e., fruit with qualitatively firmer flesh and/or more resistant skin. Four replicate row sections of two or three SHB genotypes having crispy fruit and three with conventional fruit were either hand- or machine-harvested at a commercial blueberry farm in northern Florida in April 2009 and May 2010. Harvested fruit were sorted, packed, and placed in cold storage (2°C) for up to 3 weeks. Average counts of aerobic bacteria, total yeasts and molds, coliforms, and Escherichia coli on fruit samples before the cold storage period were below commercial tolerance levels in most cases. In both years, natural disease incidence after cold storage was lowest for hand-harvested crispy fruit and highest for machine-harvested conventional fruit. Interestingly, machine-harvested crispy fruit had the same or lower disease incidence as hand-harvested conventional fruit. Across all treatments, natural postharvest disease incidence was inversely related to fruit firmness, with firmness values >220 g/mm associated with low disease. In separate experiments, samples from the 0-day cold storage period were inoculated at the stem end with Alternaria alternata, Botrytis cinerea, or Colletotrichum acutatum, and disease incidence was assessed after 7 days in a cold room followed by 60 to 72 h at room temperature. In response to artificial inoculation, less disease developed on crispy berries. No significant effect of harvest method was observed, except for A. alternata inoculation in 2009, when hand-harvested fruit developed a lower level of disease than machine-harvested fruit. Taken together, this study suggests that mechanical harvesting of SHB cultivars with crisp-textured berries is feasible from a postharvest pathology perspective.