Although inflammatory bowel disease is a well-described feature of glycogen storage disease type Ib, it has been reported in only a small number of individuals with glycogen storage disease type Ia (GSDIa). We describe, to our knowledge, the first patient with GSDIa and very early-onset inflammatory bowel disease (VEO-IBD). Larger studies are needed to better understand this possible association, elucidate the mechanism of VEO-IBD in GSDIa, and inform management.

Utilization of the antagonist fungus Trichoderma sp. in suppressing damping-off disease caused by Rhizoctonia solani can be done in various ways. One of them is through coating the seeds or encapsulation. This study aims to determine the effectiveness of lettuce seeds encapsulation containing Trichoderma sp. in suppressing damping-off disease through storage time of up to 12 weeks. The results showed that the use of talc and kaolin as a material carrier in encapsulation with 1 week of storage had the highest germination rate of 96%, while the lowest germination was at 12 weeks of storage, which was only 0-5%. The use of talc carrier showed a low percentage of infected seedlings, starting from storage time of 0 to 8 weeks. At 8 weeks of storage, the provision of carrier material in the form of talc showed the lowest percentage of infected seedlings, which was 40% on the last day of observation and had the highest value of effectiveness in controlling Rhizoctonia solani damping-off disease, which was 60%. Thus, seed encapsulation using a talc carrier was the most effective in suppressing damping-off disease up to 8 weeks of storage

Abstract An 8‐month‐old domestic short‐haired female cat presented with acute tachypnea, poor growth, hypothermia, and lethargy. Thoracic radiography showed cardiomegaly with mild pleural effusion, and transthoracic echocardiography identified dilatation of both atria and left ventricular systolic dysfunction. Although clinical signs improved temporarily with treatment, the cat died of pulmonary edema 135 days after the first visit. At necropsy, the heart was grossly enlarged. Microscopic examination of the heart identified severe vacuolization of cardiac muscle cells in histologic sections stained with hematoxylin and eosin. Examination of periodic acid‐Schiff stained preparations of formalin‐fixed heart tissue disclosed coarse granules within vacuoles that disappeared on predigestion with diastase, indicating that they were glycogen. On the basis of these findings, a necropsy diagnosis of glycogen storage disease type II (Pompe disease) was made. This report is the first case of a young cat with clinical signs closely resembling infantile Pompe disease of humans.

In order to screen out the best concentration of salicylic acid for inhibiting the pathogen of korla fragrant pear blackhead and its storage effect, the pear fruit was inoculated with different concentration of salicylic acid, and the sterile water was used as control, the pear fruits were stored at room temperature (25 °C) and cold storage temperature (2 °C) , and the korla fragrant pear was damaged and inoculated with the pathogen of blackhead disease and different concentrations of salicylic acid in vivo, store at room temperature (25 ℃) for 28 d, cold storage 49 d. Every 7 days observed and measured the incidence of fruit, disease spot diameter, respiratory intensity, hardness, soluble solids, titratable acid, VC, malondialdehyde. The results showed that 0.7 g/L salicylic acid was better than 0.5 and 0.9 g/L in inhibiting the growth of blackhead disease and keeping the quality fresh, the diameter of disease spot of fragrant pear was decreased, the respiration intensity of pear was restrained, the hardness, titratable acid, VC and MDA contents of fragrant pear were kept well, and the soluble solid content was not significantly different from other treatments. 0.9 g/L salicylic acid also damaged the peel of pear fruit. The cold stoage environment combined with 0.7 g/L salicylic acid had the best antibacterial effect on pear blackhead disease and storage quality. It could be used as a further whole fruit experiment for pear storage and preservation and inhibiting korla fragrant pear blackhead diseae.

Garlic dry rot caused by Fusarium proliferatum is an emerging postharvest disease that has resulted in severe economic losses, necessitating design and implementation of efficient disease control strategies. Sanitation of planting cloves is critical for preventing garlic dry rot. This study evaluated the efficacy of commercial chemicals and biocontrol agents, applied at planting as spray treatments, for reducing disease severity and the occurrence of Fusarium spp. in garlic, from the field stage then through 9 months of postharvest storage. Tebuconazole was the most effective for reducing disease severity, giving 26.5% reduction of basal plate rots and 44% reduction of bulb rots, and 33.4% reduction in visible symptoms on cloves relative to the untreated controls. Comparable results were obtained by applying B. subtilis and S. griseoviridis. However, none of the active ingredients tested in this study reduced the incidence of F. oxysporum and F. proliferatum on basal plates, although tebuconazole reduced the postharvest incidence of F. proliferatum on cloves by nearly 50%. Incidence of F. proliferatum increased by 37% in bulbs transferred from storage to room temperature (25°C) for 15 days, simulating storage in consumers’ homes. These results demonstrate that spray seed clove treatments have inhibitory effects on postharvest garlic dry rot, although further research is required to determine the persistence of these treatments during prolonged storage, especially without low temperatures.

Residual chlorophylls in harvested crops induce “green seed problem”, which dramatically reduces seed shelf life and storage. However, the effect of residual chlorophylls on fruit storability was largely unexplored. Here, a novel citrus brown flavedo mutant ‘Zong Cheng’ (MT) was explored to understand the effect of residual chlorophylls on fruit postharvest disease and storage. MT fruit remained brown during long-term storage, and residual chlorophyll was observed in the flavedo of MT during the whole storage period. Compared with ‘Lane Late Navel Orange’ (WT), the firmness of MT decreased, while decay incidence, weight loss, respiratory intensity, and the release of ethanol in MT increased during low-temperature storage. The disease infection and decay rate of MT are obviously higher than WT during on-tree or natural storage. Inoculation experiments revealed reduced resistance against Penicillium italicum of MT, further confirming the worse pathogen defense of MT. Perturbations in many stress-responsive phytohormones, primary metabolites, and volatiles were associated with changes in storability and pathogen defense of MT fruit. Noticeably, compared with WT, the content of hydrogen peroxide (H₂O₂) and the activities of related enzymes were increased in the flavedo of MT during storage. Further studies indicated that chlorophyll retention was closely associated with fewer starch granules and decreased starch content in the flavedo of MT, which might result in decreased firmness and the worse storability of MT. Hence, residual chlorophyll in MT causes excessive ROS accumulation and firmness decrease, and thus reduces storability and pathogen defense in MT fruit. These findings contribute to our understanding of how residual chlorophylls affect fruit storability and disease infection, and help future citrus improvement with an enhanced intrinsic defense mechanism.

Neuronal ceroid lipofuscinoses (NCL; Batten disease) are a group of inherited neurodegenerative diseases with a common set of symptoms including cognitive and motor decline and vision loss. Naturally occurring sheep models of CLN5 and CLN6 disease display the key clinical features of NCL, including a progressive loss of vision. We assessed retinal histology, astrogliosis, and lysosomal storage accumulation in CLN5 affected (CLN5 −/−) and CLN6 affected (CLN6 −/−) sheep eyes and age-matched controls at 3, 6, 12, and 18 months of age to determine the onset and progression of retinal pathology in NCL sheep. The retina of CLN5 −/− sheep shows progressive atrophy of the outer retinal layers, widespread gliosis, and accumulation of lysosomal storage in retinal ganglion cells late in disease. In contrast, CLN6 −/− retina shows significant atrophy of all retinal layers, progressive gliosis, and earlier accumulation of lysosomal storage. This study has highlighted the differential vulnerability of retinal layers and the time course of retinal atrophy in two distinct models of NCL disease. This data will be valuable in determining potential targets for ocular therapies and the optimal timing of these therapies for protection from retinal dysfunction and degeneration in NCL.

Glycogen storage disease type Ib (GSD-Ib), characterized by impaired glucose homeostasis, neutropenia, and neutrophil dysfunction, is caused by a deficiency in glucose-6-phosphate transporter (G6PT). Neutropenia in GSD-Ib has been known to result from enhanced apoptosis of neutrophils. However, it has also been raised that neutrophil maturation arrest in the bone marrow would contribute to neutropenia. We now show that G6pt⁻/⁻ mice exhibit severe neutropenia and impaired neutrophil differentiation in the bone marrow. To investigate the role of G6PT in myeloid progenitor cells, the G6PT gene was mutated using CRISPR/Cas9 system, and single cell-derived G6PT⁻/⁻ human promyelocyte HL-60 cell lines were established. The G6PT⁻/⁻ HL-60s exhibited impaired neutrophil differentiation, which is associated with two mechanisms: (i) abnormal lipid metabolism causing a delayed metabolic reprogramming and (ii) reduced nuclear transcriptional activity of peroxisome proliferator-activated receptor-γ (PPARγ) in G6PT⁻/⁻ HL-60s. In this study, we demonstrated that G6PT is essential for neutrophil differentiation of myeloid progenitor cells and regulates PPARγ activity.

A progressive neurological disorder was identified in purebred Dalmatian dogs. The disease is characterized by anxiety, pacing and circling, hypersensitivity, cognitive decline, sleep disturbance, loss of coordination, loss of control over urination and defecation, and visual impairment. Neurological signs first became apparent when the dogs were approximately 18 months of age and progressed slowly. Two affected littermates were euthanized at approximately 7 years, 5 months and 8 years, 2 months of age due to the severity of neurological impairment. The mother of the affected dogs and four other relatives exhibited milder, later-onset neurological signs. Pronounced accumulations of autofluorescent intracellular inclusions were found in cerebral cortex, cerebellum, optic nerve, and cardiac muscle of the affected dogs. These inclusions co-localized with immunolabeling of the lysosomal marker protein LAMP2 and bound antibodies to mitochondrial ATPase subunit c, indicating that the dogs suffered from a lysosomal storage disease with similarities to the neuronal ceroid lipofuscinoses. Ultrastructural analysis indicated that the storage bodies were surrounded by a single-layer membrane, but the storage granules were distinct from those reported for other lysosomal storage diseases. Whole genome sequences, generated with DNA from the two euthanized Dalmatians, both contained a rare, homozygous single-base deletion and reading-frame shift in CNP which encodes the enzyme CNPase (EC 3.1.4.37). The late-onset disease was exhibited by five of seven related Dalmatians that were heterozygous for the deletion allele and over 8 years of age, whereas none of 16 age-matched reference-allele homozygotes developed neurologic signs. No CNPase antigen could be detected with immunohistochemical labeling in tissues from the dogs with the earlier-onset disorder. Similar to the later-onset Dalmatians, autofluorescent storage granules were apparent in brain and cardiac tissue from transgenic mice that were nullizygous for Cnp. Based on the clinical signs, the histopathological, immunohistochemical, ultrastructural, and molecular-genetic findings, and the finding that nullizygous Cnp mice accumulate autofluorescent storage granules, we propose that the earlier-onset Dalmatian disorder is a novel lysosomal storage disease that results from a loss-of-function mutation in CNP and that shares features characteristic of the neuronal ceroid lipofuscinoses. That the later-onset disorder occurred only in dogs heterozygous for the CNP deletion variant suggests that this disorder is a result of the variant allele’s presence.

Glycogen storage disease type 1a (GSD Ia) is an inborn error of carbohydrate metabolism. Despite severe hyperlipidemia, GSD Ia patients show limited atherogenesis compared to age-and-gender matched controls. Employing a GSD Ia mouse model that resembles the severe hyperlipidemia in patients, we here found increased atherogenesis in GSD Ia. These data provide a rationale for investigating atherogenesis in GSD Ia in a larger patient cohort.