Glycogen storage disease type 5 (GSD) is an autosomal recessive metabolic myopathy caused by pathogenic variants in the PYGM gene. We report the case of a patient with typical exercise intolerance with a “second wind” phenomenon, associated with camptocormia which is not commonly recognized as a feature of the disease. Molecular analysis of the PYGM gene the common c.148C > T [p.(Arg50*)] variant and a missense variant in exon 12, c.1471C > T [p.(Arg491Cys)]. GSD 5 and Pompe disease are both glycogen storage diseases in which axial involvement has been described. Although probably underestimated, severe axial myopathy has been rarely reported in GSD 5. We suggest that the long-lasting symptoms associated with camptocormia should be considered as possible initial features of GSD 5.

Malaysia ranks among the world’s top 20 pineapple producers, driven by the success of the MD2 variety in meeting domestic and international demand. However, postharvest losses due to pathological diseases remain a challenge. Black rot, a major postharvest disease, causes significant economic losses in pineapples. Despite its presence in various cultivars, its aetiology, specifically in MD2 pineapples remains unclear. This study was conducted to identify the principal causative pathogen of black rot disease in pineapple from three different regions. In addition, critical factors influencing black rot disease were investigated, such as the minimum inoculum concentration, appropriate storage temperature, and maturity index required to initiate infection. Thielaviopsis paradoxa was identified as the primary pathogen causing black rot, with 50 and 45% occurrence at two specific cultivation sites. Other associated pathogens included Lasiodiplodea theobromae, Trichoderma asperellum, Curvularia eragrostidis, Neoscytalidium dimidiatum, Aspergillus assiutensis, and Aspergillus aculeatus. Fruits stored at ambient temperature with a maturity index of 2 showed higher disease progression than those in cold storage. A minimum inoculum concentration of 1 × 104 CFU/mL was sufficient for infection at both storage conditions. The Pearson correlation analysis revealed a weak positive link (r > 0.39, p < 0.0001) between harvesting index and fruit pH, while pH and storage temperature had a strong positive correlation (r = 0.83, p < 0.0001). The increments in pH correlated with lesion length and infected area (r = 0.83 and r = 0.82, respectively). The harvesting index showed a strong positive correlation with the proportion of infected area (r = 0.86, p < 0.0001). The telomorph state of T. paradoxa, identified as Ceratocystis paradoxa, persists in soil and decaying plant material, acting as a quiescent pathogen, increasing cross-contamination risks. Urgent measures are required to reduce postharvest losses and maintain the quality of pineapples for international markets.

ABSTRACT The preservation of grapes during storage and transportation has long been a challenge due to the presence of Botrytis cinerea. Studies have shown that chitosan and selenium are effective in preserving fruits and vegetables during storage. This study investigated the effect of selenium‐chitosan (25 mg L−1 selenium and 1.0% chitosan) treatment on Red Globe grapes' disease resistance during storage at 0°C. The results indicated that treatment with selenium‐chitosan significantly reduced the decay rate of grapes from 41.79% to 4.93% at 60 days of storage. Additionally, the treatment increased the activities of POD and CAT and decreased the activity of PPO. The application of selenium‐chitosan resulted in increased activity of PAL, C4H, and 4CL which was related to the phenylalanine pathway, leading to the accumulation of phenolic compounds and improved disease resistance in grapes. RT‐qPCR analysis revealed that the upregulation of VvPAL, VvC4H, and Vv4CL was delayed in grapes treated with selenium‐chitosan. Their expression levels were significantly lower than those of the control grapes, with reductions to 2.37%, 2.02% and 10.60 at 60 days of storage, respectively. After inoculation with Botrytis cinerea, grapes treated with selenium‐chitosan effectively limited the growth of Botrytis cinerea mycelium. These results suggest that selenium‐chitosan treatment significantly improves resistance to microbial infestation and limits fungal growth after exposure.

Fabry disease (FD) is an X-linked lysosomal storage disorder characterized by deficiency of α-galactosidase A (α-GalA), leading to the accumulation of glycosphingolipids and multi-organ dysfunction, particularly affecting the cardiovascular and renal systems. Disease-modifying treatments such as enzyme replacement therapy (ERT) and oral chaperone therapy (OCT) have limited efficacy, particularly in advanced disease, prompting a need for innovative therapeutic approaches targeting underlying molecular mechanisms beyond glycosphingolipid storage alone. Recent insights into the pathophysiology of FD highlights chronic inflammation and mitochondrial, lysosomal, and endothelial dysfunction as key mediators of disease progression. Adjunctive therapies such as sodium-glucose cotransporter-2 (SGLT2) inhibitors, glucagon-like peptide-1 (GLP-1) agonists, and mineralocorticoid receptor antagonists (MRAs) demonstrate significant cardiovascular and renal benefits in conditions including heart failure and chronic kidney disease. These drugs also modulate pathways involved in the pathophysiology of FD, such as autophagy, oxidative stress, and pro-inflammatory cytokine signaling. While theoretical foundations support their utility, dedicated trials are necessary to confirm efficacy in the FD-specific population. This narrative review highlights the importance of expanding therapeutic strategies in FD, advocating for a multi-faceted approach involving evidence-based adjunctive treatments to improve outcomes. Tailored research focusing on diverse FD phenotypes, including females and non-classical variants of disease, will be critical to advancing care and improving outcomes in this complex disorder.

The potato (<i>Solanum tuberosum</i> L.) is one of the most widely consumed vegetable crops worldwide. During storage, potato tubers are vulnerable to various phytopathogenic fungi. Dry rot, caused by <i>Fusarium incarnatum</i>, is a common and serious disease that affects potato tubers, leading to partial or complete decay during storage. The current study assessed the effectiveness of three ethanolic extracts including cinnamon bark (CIB), clove buds (CLB), and avocado seeds (AVS) in controlling potato dry rot under both normal and cold storage conditions. In vitro bioassay demonstrated that all tested extracts exhibited a dose-dependent fungistatic effect against <i>F. incarnatum</i>, with inhibition percentages of 83.33% for CIB, 72.22% for CLB, and 67.77% for AVS at the highest tested concentration. Moreover, dipping potato tubers in the tested extracts markedly reduced the severity of dry rot disease under both normal and cold storage conditions. Additionally, treated tubers showed increased activities of defense-related enzymes, including catalase, peroxidase, polyphenol oxidase, and phenylalanine ammonia-lyase. Furthermore, there were higher levels of total soluble phenolics and flavonoids, along with an increase in lignin content and a reduction in the weight loss of stored potato tubers compared to the control group. Moreover, the extracts mitigated infection stress and lowered malondialdehyde levels in the treated potato tubers. These extracts show potential as environmentally friendly alternatives to chemical fungicides for managing potato dry rot caused by <i>F. incarnatum</i> under normal and cold storage.

Introduction: Gaucher disease is a lysosomal storage disease due to deficiency of glucocerebrosidase, leading to the accumulation of glucosylceramide, particularly in macrophages. In addition to storage, secondary abnormalities such as inflammation, cellular stress, and impaired autophagy may contribute to the disease pathogenesis. The onset and course of progression of these secondary abnormalities remains unclear. Owing to the increasingly widespread newborn screening programs, diagnosis can be made at a presymptomatic stage. Understanding the early natural course of the disease is important for optimal monitoring and management of such at-risk individuals.The aim of our study is to investigate secondary abnormalities in very young children with type 1 Gaucher disease identified through neonatal screening. Materials and methods: We enrolled five children (<4 years old) with type I Gaucher disease in a presymptomatic stage and not receiving therapy. We assessed plasma cytokine profiles (TNFα, IL1β, and IL6 by ELISA), activation of pro-inflammatory p38 mitogen-activated protein kinase (MAPK) and the abundance of LC3-II as indicator of autophagic flux, by immunoblotting. Results: All subjects exhibited elevated TNFα (mean 21.74 μmol/L, SD 37.48, range 2.37–88.72 μmol/L). The other cytokines analyzed were within normal range. Cellular stress (activation of p38) was present in the child with higher glucosylsphingosine (GluSph) accumulation. Additionally, all subjects showed a significant reduction in LC3-II (mean 88 %, SD 9 %, range 77–98 %), indicating reduced autophagic flux. Discussion: We have identified the presence of inflammation with inhibition of autophagic flux in presymptomatic young children with a genetically confirmed high-risk of developing Gaucher disease. These findings contribute insights into the early course of Gaucher disease and support the management of at-risk individuals identified by newborn screening. Therapeutic interventions including specific enzyme replacement or other means to address inflammation or autophagy could delay or prevent the onset of symptomatic disease and consequential disability. Further clinical studies are warranted to explore these possibilities.

Regular monitoring of susceptible animal species for specific antibodies is essential to achieve or to maintain disease free status for a country. The absence of certain disease in a country for many decades would yield expectation that collected animal serums would be negative for the presence of specific antibodies. However, large-scale tests often dismiss single reactor findings as poor sample quality. The current study aimed to investigate the effect of storage conditions of negative serum samples and the specificity of ELISA kits on the test results, focusing on two key livestock diseases: foot-and-mouth disease (FMD) and peste des petits ruminants (PPR). Serum samples from bovine and ovine sources were stored at varying temperatures and durations, were subjected to freeze-thaw cycles, and were retested. Results were compared with zero-day tests which were considered to be truly accurate and negative. The quality of ELISA test results is less significantly affected by serum samples quality (affected by temperature, storage time, and freeze-thaw cycles) and occurrence of false positive single reactors, than the diagnostic specificity of different ELISA lots. This study challenges the conventional justification for single-reactor findings and underscores the importance of ELISA kit quality.

Niemann–Pick disease type C (NPC) is a devastating lysosomal storage disease characterized by abnormal cholesterol accumulation in lysosomes. Currently, there is no treatment for NPC. Transcription factor EB (TFEB), a member of the microphthalmia transcription factors (MiTF), has emerged as a master regulator of lysosomal function and promoted the clearance of substrates stored in cells. However, it is not known whether TFEB plays a role in cholesterol clearance in NPC disease. Here, we show that transgenic overexpression of TFEB, but not TFE3 (another member of MiTF family) facilitates cholesterol clearance in various NPC1 cell models. Pharmacological activation of TFEB by sulforaphane (SFN), a previously identified natural small-molecule TFEB agonist by us, can dramatically ameliorate cholesterol accumulation in human and mouse NPC1 cell models. In NPC1 cells, SFN induces TFEB nuclear translocation via a ROS-Ca2+-calcineurin-dependent but MTOR-independent pathway and upregulates the expression of TFEB-downstream genes, promoting lysosomal exocytosis and biogenesis. While genetic inhibition of TFEB abolishes the cholesterol clearance and exocytosis effect by SFN. In the NPC1 mouse model, SFN dephosphorylates/activates TFEB in the brain and exhibits potent efficacy of rescuing the loss of Purkinje cells and body weight. Hence, pharmacological upregulating lysosome machinery via targeting TFEB represents a promising approach to treat NPC and related lysosomal storage diseases, and provides the possibility of TFEB agonists, that is, SFN as potential NPC therapeutic candidates.

Grapevines are propagated by grafting, but the rootstocks used in commercial plantations are susceptible to several diseases. In this study, we focused on a novel root and trunk rot disease of grapevine plantlets that show symptoms during cold storage, before field establishment. Our objectives were to study the aetiology, symptomatology, plant resistance responses, and mode of action of the pathogen that was initially identified as <i>Fusarium</i>. The characterisation of this pathosystem was performed by isolation, pathogenicity assays, genetic diversity studies with BOX-PCR, and identification by sequencing a fragment of the <i>tef1</i> gene. Scanning electron microscopy and X-ray spectroscopy were used to study the mode of action and plant resistance responses. The results showed that 12 species of <i>Fusarium</i>, initially isolated from both healthy and diseased plantlets, and classified into 4 species complexes, were pathogenic to grapevines. Comparative analyses between diseased and healthy roots showed typical resistance responses in diseased plantlets, including tyloses formation, translocation of Ca, and accumulation of Si. Field experiments confirmed that 100% of the diseased plantlets died within 90 days of transplantation. This study contributes to a better understanding of root and trunk rot disease under cold storage and provides insights for the development of management strategies.