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The etiology for corneal clouding from the birth is varied and includes conditions such as sclerocornea, birth trauma, corneal ulcer, Peters anomaly, and rare causes like mucopolysaccharidoses (MPS). The lysosomal storage disorders are associated with a varied ocular manifestation including bilateral corneal clouding which is often mild and stippled except in few cases like Hunter syndrome where cornea is often clear. We report a case of MPS Type I S (MPS 1) with near-normal visual acuity and bilateral dense corneal clouding with sparing of central 3 mm of cornea. The patient also had typical facial and skeletal abnormalities of lysosomal storage disorder. To our best knowledge, MPS 1 with marked corneal clouding with sparing of central cornea is very rare and has not been reported. This case report emphasizes on the atypical ocular presentation of MPS and the need for ophthalmological screening in the storage disorders.

Purpose of Review: We describe the most common phenocopies of hypertrophic cardiomyopathy, their pathogenesis, and clinical presentation highlighting similarities and differences. We also suggest a step-by-step diagnostic work-up that can guide in differential diagnosis and management. Recent Findings: In the last years, a wider application of genetic testing and the advances in cardiac imaging have significantly changed the diagnostic approach to HCM phenocopies. Different prognosis and management, with an increasing availability of disease-specific therapies, make differential diagnosis mandatory. Summary: The HCM phenotype can be the cardiac manifestation of different inherited and acquired disorders presenting different etiology, prognosis, and treatment. Differential diagnosis requires a cardiomyopathic mindset allowing to recognize red flags throughout the diagnostic work-up starting from clinical and family history and ending with advanced imaging and genetic testing. Different prognosis and management, with an increasing availability of disease-specific therapies make differential diagnosis mandatory. [ABSTRACT FROM AUTHOR]

Abstract Background Oligosaccharidoses are storage disorders due to enzymatic defects involved in the breakdown of the oligosaccharidic component of glycosylated proteins. The defect cause the accumulation of oligosaccharides (OS) and, depending on the lacking enzyme, results in characteristic profiles which are helpful for the diagnosis. We developed a new tandem mass spectrometry method for the screening of urinary OS which was applied to identify a large panel of storage disorders. Methods The method was set-up in urine and dried urine spots (DUS). Samples were analysed, without derivatization and using maltoheptaose as internal standard, by UHPLC-MS/MS with MRM acquisition of target OS transitions, including Glc4, the biomarker of Pompe disease. The chromatographic run was

The etiology for corneal clouding from the birth is varied and includes conditions such as sclerocornea, birth trauma, corneal ulcer, Peters anomaly, and rare causes like mucopolysaccharidoses (MPS). The lysosomal storage disorders are associated with a varied ocular manifestation including bilateral corneal clouding which is often mild and stippled except in few cases like Hunter syndrome where cornea is often clear. We report a case of MPS Type IS (MPS 1) with near-normal visual acuity and bilateral dense corneal clouding with sparing of central 3 mm of cornea. The patient also had typical facial and skeletal abnormalities of lysosomal storage disorder. To our best knowledge, MPS 1 with marked corneal clouding with sparing of central cornea is very rare and has not been reported. This case report emphasizes on the atypical ocular presentation of MPS and the need for ophthalmological screening in the storage disorders. [ABSTRACT FROM AUTHOR]

Neuronal ceroid lipofuscinoses (NCLs) are a group of rare neurodegenerative storage disorders associated with devastating visual prognosis, with an incidence of 1/1,000,000 in the United States and comparatively higher incidence in European countries. The pathophysiological mechanisms causing NCLs occur due to enzymatic or transmembrane defects in various sub-cellular organelles including lysosomes, endoplasmic reticulum, and cytoplasmic vesicles. NCLs are categorized into different types depending upon the underlying cause i.e., soluble lysosomal enzyme deficiencies or non-enzymatic deficiencies (functions of identified proteins), which are sub-divided based on an axial classification system. In this review, we have evaluated the current evidence in the literature and reported the incidence rates, underlying mechanisms and currently available management protocols for these rare set of neuroophthalmological disorders. Additionally, we also highlighted the potential therapies under development that can expand the treatment of these rare disorders beyond symptomatic relief. [ABSTRACT FROM AUTHOR]

Background: Oligosaccharidoses are storage disorders due to enzymatic defects involved in the breakdown of the oligosaccharidic component of glycosylated proteins. The defect cause the accumulation of oligosaccharides (OS) and, depending on the lacking enzyme, results in characteristic profiles which are helpful for the diagnosis. We developed a new tandem mass spectrometry method for the screening of urinary OS which was applied to identify a large panel of storage disorders.Methods: The method was set-up in urine and dried urine spots (DUS). Samples were analysed, without derivatization and using maltoheptaose as internal standard, by UHPLC-MS/MS with MRM acquisition of target OS transitions, including Glc4, the biomarker of Pompe disease. The chromatographic run was < 30 min. Samples from patients with known storage disorders were used for clinical validation.Results: The method allowed to confirm the diagnosis of oligosaccharidoses (sialidosis, α-/β-mannosidosis, fucosidosis, aspartylglucosaminuria) and of GM1 and GM2 (Sandhoff type) gangliosidosis, by detecting specific OS profiles. In other storage disorders (mucolipidosis II and III, mucopolysaccharidosis type IVB) the analyisis revealed abnormal OS excretion with non-specific profiles. Besides Pompe disease, the tetrasaccharide Glc4 was increased also in disorders of autophagy (Vici syndrome, Yunis-Varon syndrome, and Danon disease) presenting cardiomuscular involvement with glycogen storage. Overall, results showed a clear separation between patients and controls, both in urine and in DUS.Conclusion: This new UHPLC/MS-MS method, which is suitable for rapid and easy screening of OS in urine and DUS, expands the detection of storage disorders from oligosaccharidoses to other diseases, including the novel category of inherited disorders of autophagy. [ABSTRACT FROM AUTHOR]

‘Fuyu’ is the most cultivated persimmon variety worldwide, but it is susceptible to storage disorders. Thus, it is necessary to improve its storage quality using postharvest technologies. Here, ‘Fuyu’ persimmon fruit were preconditioned after harvest by exposing them to high temperature (30°C) and low, medium, or high relative humidity for 6 or 24 h. Fruit were stored at room temperature for 15 days or cold room (0°C) for 40 days. Subsequently, the effect of the preconditioning on the firmness, soluble solids content, and colour (Hunter a and b values) of the fruit was evaluated. Persimmon preconditioned at 30°C and low (<30%) humidity for 24 h exhibited lower incidence of storage disorders, as well as greater firmness and total soluble solids and less reddening than did fruit in other treatment groups. The results suggest that the proposed preconditioning can delay quality deterioration in ‘Fuyu’ persimmon during storage. [ABSTRACT FROM AUTHOR]

Soft scald and soggy breakdown are important postharvest physiological disorders of apple ( Malus × domestica). 'Honeycrisp' and some of its offspring are particularly susceptible to developing these disorders. The purpose of this study was to identify molecular markers associated with high incidences of soft scald and soggy breakdown for use in marker-assisted breeding. Towards this aim, we employed a pedigree-based approach using mostly germplasm related to 'Honeycrisp.' Two quantitative trait loci (QTL) were consistently identified on linkage groups (LGs) 2 and 16 across the 2014 and 2015 harvest years. The same QTL were identified for both storage disorders, indicating that they may be physiologically related. 'Honeycrisp' is homozygous for an identical by state haplotype at the LG2 QTL that was consistently associated with a deleterious effect on soft scald and soggy breakdown incidence. This haplotype was traced through SNP-confirmed pedigrees to the following cultivars: 'Grimes Golden,' 'Northern Spy,' 'Rome Beauty,' and 'Fireside' and is common in derived apple germplasm. Haplotypes at the LG16 QTL could not be adequately characterized due to variation between years combined with effects of this QTL being of relatively smaller size and being most evident in individuals that carry two copies of the deleterious haplotype at the LG2 QTL. These results suggest that limiting homozygosity of the deleterious haplotype at the LG2 QTL through marker-assisted breeding would be a valid strategy to limit soft scald and soggy breakdown incidences in apple seedling populations. [ABSTRACT FROM AUTHOR]

Gaucher Disease is an autosomal recessive disease caused by the accumulation of glucocerebrosidase due to deficiency in lysosomal glucocerebrosidase. Thalassaemia trait is asymptomatic and is usually an incidental diagnosis. Both thalassaemia and Gaucher disease can have similar haematologic manifestations and hence, their coexistence causes diagnostic dilemma. Our patient presented at one-and-a-half years with weakness, pallor, failure to thrive and massive hepatosplenomegaly. Clinical examination and history pointed to a lipid storage disease. Peripheral smear revealed microcytic hypochromic cells and nucleated red cells with haemolytic blood picture. Thalassaemia trait was indicated on haemoglobin variant analysis using High Performance Liquid Chromatography. Liver biopsy, bone marrow aspirate and therapeutic splenectomy revealed Gaucher-like cells. Type 1 Gaucher disease can be clinically asymptomatic as well as present with massive liver and spleen enlargement and involvement of bone marrow. Anaemia, splenomegaly and thrombocytopenia are the usual presentations at diagnosis, similar to the haemoglobinopathies. Gaucher-like cells with normal beta-glucocerebrosidase (pseudo-Gaucher cells) are seen in thalassaemia, leukaemia, mycobacterial infections and myeloma. Gaucher disease coexisting with thalassaemia trait is uncommon. We report the occurrence of thalassaemia trait and Gaucher disease in a child, which resulted in confusion regarding the haematological diagnosis. This report highlights the necessity of independent establishment of the diagnosis in every patient so that appropriate management decisions are taken.

Alternatives are needed for long-term preservation of European pears (Pyrus communis L.) after the ban on diphenylamine. “Rocha” pear fruit harvested at commercial maturity were treated with 1-methylcyclopropene (1-methylcyclopropene, SmartFresh™) and diphenylamine and stored at 0 ℃, 90–95% relative humidity, under normal atmosphere for up to six months or under controlled atmosphere (controlled atmosphere, 3 kPa O2 + 0.7 kPa CO2) for up to 9.4 months. At 312 nl l−1, 1-methylcyclopropene reduced softening and yellowing, and increased soluble solids content during shelf life in comparison with fruit treated with diphenylamine. 1-Methylcyclopropene at 312 nl l−1 was also more effective than diphenylamine in reducing superficial scald and internal browning disorders. 1-Methylcyclopropene at 150 nl l−1 had little effect on ripening-related changes but was effective against physiological disorders of pears stored in regular atmosphere or under controlled atmosphere. Delayed controlled atmosphere slightly reduced internal browning disorders but increased superficial scald. 1-Methylcyclopropene at 312 nl l−1 reduced physiological disorders in “Rocha” pear under refrigerated storage and delayed ripening-related softening and color changes during shelf life. At 150 nl l−1, 1-methylcyclopropene is as effective as diphenylamine against storage disorders without ripening impairment. [ABSTRACT FROM AUTHOR]

Postharvest decay and insect infestation are two major causes of postharvest losses along the fresh produce supply chain. Although these problems can usually be controlled with pesticide applications, the use of chemicals postharvest is becoming limited due to increasingly strict regulations enforced by importing countries. Heat treatments are environmentally friendly and are being increasingly used for disinfestation and disinfection of a variety of crops. These treatments help to eradicate pathogens or pests on the fruit while maintaining the overall quality of the fresh produce during storage, shipment and marketing. Treatment times and temperatures range widely, from days at 35–39°C in hot air, up to 63°C in hot water for a few seconds. This review will discuss the heat treatments developed in the Department of Postharvest Science, Volcani Center Israel, for fresh produce to control fungal decay, insect damage and maintain produce quality during storage and marketing. [ABSTRACT FROM AUTHOR]

The objective of this study was to investigate the effects of multiple 1-methylcyclopropene (1-MCP) treatments on fruit quality and disorder development in apples, with a second 1-MCP treatment applied after several months of controlled atmosphere (CA) storage. ‘McIntosh’, ‘Empire’, and ‘Northern Spy’ apples were harvested from commercial orchards and cooled overnight to 3 °C. 1-MCP (1 μL L −1 ) was applied 2 d after harvest and then again to half of the fruit after 4 months of CA storage. ‘Northern Spy’ apples also received a single 1-MCP treatment after 4 months of CA storage. Similar fruit from all cultivars were also not treated with 1-MCP. ‘McIntosh’ and ‘Empire’ were held at 3 °C and ‘Northern Spy’ at 0 °C for 9 months in CA storage (2.5 kPa O 2 + 2kPa CO 2 for ‘Empire’, 2.5 kPa CO 2 for ‘Northern Spy’, and 2.5 up to 4.5 kPa CO 2 for ‘McIntosh’). Overall, 1-MCP reduced internal ethylene production, and improved firmness and acidity retention in all apple cultivars. The addition of a second 1-MCP treatment after 4 months of CA storage further improved firmness retention in ‘McIntosh’ and late harvested ‘Empire’ apples after 7 d at room temperature. ‘Northern Spy’ apples treated with 1-MCP had lower incidence of external CO 2 injury, regardless of 1-MCP treatment timing. Multiple 1-MCP treatments had varying effects on the incidence of core browning; late-harvested ‘McIntosh’ treated twice with 1-MCP exhibited the highest incidence of core browning, while late-harvested ‘Empire’ treated twice had less core browning than those not treated. ‘Northern Spy’ treated only at harvest time had more core browning compared to those treated only or also after 4 months of CA storage and non-treated fruit. 1-MCP treatment had no significant effect on the incidence of internal browning in ‘McIntosh’ or ‘Empire’ apples. These results suggest that a second application of 1-MCP after 4 months of CA storage may improve firmness retention in some cultivars during holding at room temperature, but it can also have variable responses associated with susceptibility to disorders, especially when holding apples in long-term CA storage. [ABSTRACT FROM AUTHOR]

The efficacy of 1-methylcyclopropene (1-MCP) in extending storage life of the Pacific Northwest ‘Bartlett’ pear is inconsistent. The effects of harvest maturity [H1: flesh firmness (FF) ≈ 83.6 N; H2: FF ≈ 74.8 N], production elevation (E1 ≈ 150 m; E2 ≈ 610 m), and holding temperature (0 and 5 °C) prior to application of 1-MCP have been measured with respect to ethylene production, fruit quality, and storage disorders of ‘Bartlett’ fruit during 6 months of storage at −1.1 °C. 1-MCP at 0.3 μL L −1 for 24 h at 0 °C inhibited ethylene production, FF and green color losses, senescence disorders, and friction discoloration for H1 fruit from both elevations. However, 1-MCP efficacy was reduced moderately in E1H2 fruit and reduced to a greater extend in E2H2 fruit. Internal ethylene concentration (IEC) at harvest was not detected in H1 fruit from either elevation, but it accumulated in E1H2 and E2H2 fruit (E2H2 > E1H2). The holding temperature at 5 °C but not 0 °C for 12 d between harvest and 1-MCP treatment increased fruit IEC and ethylene production rate and reduced the fruit response to subsequent 1-MCP treatment. The fruit physiological stage at the moment of 1-MCP treatment determined the efficacy of 1-MCP in extending the storage life of ‘Bartlett’ pears. 1-MCP retarded development of ripening capacity and 10–14 d at 20 °C were needed to ripen 1-MCP treated ‘Bartlett’ pears to optimum eating quality following 5–6 months of cold storage. [ABSTRACT FROM AUTHOR]

Superficial scald is a disorder developed in cold storage by 'Conference' and 'Abbé Fétel' pears and it has been related to the presence of oxidation products, mainly conjugated trienols (CTols), of which α-farnesene is primary, acting on epidermal cells. Among tested postharvest methods to control scald, there is treatment at harvest with 1-methylcyclopropene (1-MCP) and initial low oxygen stress (ILOS). The investigation presented here studied, in 'Conference' and 'Abbé Fétel' pears treated with 1-MCP (300 µL L-1), the physiolological and quality implications of storage in controlled atmosphere (CA, 2 kPa O2 + 0.7 kPa CO2, -0.5°C) after two 2-weeks ILOS (0.3-0.5 kPa O2) periods at three-week intervals after 13 and 21 weeks of storage and shelf life at 20°C up to seven days. Results showed that 1-MCP treatment severely reduced α-farnesene, CTol269, CTol281 and ethanol after ILOS treatment in both cultivars, and ethyl acetate in 'Abbé Fétel' pears. Furthermore, it impaired fruit softening, delayed skin yellowing and reduced ethylene production in shelf life. At sensory analyses, 1-MCP treated 'Conference' and 'Abbé Fétel' pears were described as being firmer and less juicy, sweet and aromatic than untreated fruit. 1-MCP treated pears did not develop superficial scald and soft scald in 'Abbé Fétel', nor superficial scald and black speck after 21 weeks of storage in 'Conference'. [ABSTRACT FROM AUTHOR]

Bitter pit is one of the most economically important physiological disorders affecting apple fruit production, causing soft discrete pitting of the cortical flesh of the apple fruits which renders them unmarketable. The disorder is heritable; however, the environment and cultural practices play a major role in expression of symptoms. Bitter pit has been shown to be controllable to a certain extent using calcium sprays and dips; however, their use does not entirely prevent the incidence of the disorder. Previously, bitter pit has been shown to be controlled by two dominant genes, and markers on linkage group 16 of the apple genome were identified that were significantly associated with the expression of bitter pit symptoms in a genome-wide association study. In this investigation, we identified a major QTL for bitter pit defined by two microsatellite (SSR) markers. The association of the SSRs with the bitter pit locus, and their ability to predict severe symptom expression, was confirmed through screening of individuals with stable phenotypic expression from an additional mapping progeny. The data generated in this current study suggest a two gene model could account for the control of bitter pit symptom expression; however, only one of the loci was detectable, most likely due to dominance of alleles carried by both parents of the mapping progeny used. The SSR markers identified are cost-effective, robust and multi-allelic and thus should prove useful for the identification of seedlings with resistance to bitter pit using marker-assisted selection in apple breeding programs. [ABSTRACT FROM AUTHOR]

Storage diseases are metabolic multiorgan conditions, which may be divided into lysosomal and nonlysosomal diseases. Disorders of the lysosomal type require electron microscopy for morphological diagnosis. It is the metabolic substrate that determines involvement of the cell type or organ in the individual storage disease, allowing extracerebral biopsies, for instance, in the neuronal ceroid-lipofuscinoses (NCL). A hierarchy of tissues biopsied for diagnosis can be based on easy accessibility: blood lymphocytes, skin, conjunctiva, rectum, skeletal muscle. Lysosomal diseases are divided into vacuolar and nonvacuolar ones. NCL display variegated ultrastructural patterns. Drugs may induce lysosomal storage. Finally, polyglucosan body diseases require attention. [ABSTRACT FROM AUTHOR]

We compared the long-term effects of whole-vine source-sink manipulation on yield, composition, and quality of fruit from mature field-grown kiwifruit (Actinidia chinensis Planch, var. chinensis) 'Hortl6A' vines. Four contrasting source/sink-modifying treatments were applied to vines each year from Spring 2003 to 2007:1) control--standard canopy management techniques, no trunk girdle; 2) extended trunk girdle (ETG)--girdle was opened in late summer, kept open over winter, and allowed to heal the next spring; 3) "feast"--cropload was kept low and leaf numbers kept high, no trunk girdle; and 4) "famine"--fruit numbers were kept high and vines were heavily pruned to stimulate regrowth, no trunk girdle. Fruit from the famine vines were smaller with lower dry matter concentration (DMC; dry weight as a percentage of fresh weight) and had delayed maturity relative to fruit from the control vines. Return bloom was reduced in the famine vines, resulting in ≈42% less fruit in the famine vines compared with the feast vines, and this difference remained consistent across all three seasons. Fruit from the feast treatment were larger with advanced maturity relative to fruit from control vines; there were no differences in fruit numbers in subsequent seasons. Fruit DMC was higher and maturity was advanced in the ETG vines relative to the control vines. Fruit numbers in the ETG vines consistently increased relative to the control vines each season. There were no consistent treatment effects on fruit mineral concentrations, except that fruit from the feast vines had higher nitrogen concentrations than fruit from the famine vines. Seasonal variation in the incidence of storage disorders was large; in years when disorders were present, physiological pitting incidence was higher in fruit from the treatments that advanced maturity and the incidence of low temperature breakdown was highest in treatments that delayed maturity. Although the treatments affected vine productivity, fruit DMC, and storage performance, there was no evidence of a gradual decline in quality and productivity after 4 years of treatment application. [ABSTRACT FROM AUTHOR]

Preconditioning, holding fruit at 10, 17.5, or 21 °C temperatures for up to 7 days before placement in cold storage, was inconsistent in its effect on soft scald and soggy breakdown in 'Honeycrisp' apples in Maine and Ontario. In Ontario, 4 days of preconditioning at 21 °C increased soft scald in 1 year but had no effect in the next year. Five d of preconditioning at 10 °C reduced soft scald and had no effect on soggy breakdown in 1 year but reduced it the next year. In Maine, 5 days preconditioning at 17.5 °C was effective in reducing soft scald and/or soggy breakdown in 2002 to 2007 when starch index at harvest was 5.9 to 7.2. Seven days of preconditioning at 17.5 °C increased soggy breakdown with an early harvest in two orchards but only in one of two orchards with a later harvest. This same preconditioning bad no effect on soft scald with the first harvest but reduced it with the second. In the next year, the same preconditioning treatment increased soft scald and soggy breakdown with an early maturity but had no effect with a later maturity in one orchard bur not in fruit from another. Conditions during preconditioning and subsequent cold storage temperatures varied from previous recommendations, and this may be why preconditioning was not consistent in our studies and in some cases increased chilling disorders. [ABSTRACT FROM AUTHOR]

The main objective of this study was to investigate the effectiveness of preharvest 1-methylcyclopropene (1-MCP) treatment on the development of soft scald in 'Honeycrisp' apples. In addition, the effects of preharvest 1-MCP on fruit quality at harvest and after storage were examined. For two consecutive years of study, 'Honeycrisp' trees were sprayed preharvest with 1-MCP and fruit were harvested twice during each year. Preharvest 1-MCP treatments had little consistent effect on fruit maturity at the time of harvest. In both years of study, preharvest 1-MCP reduced the incidence of soft scald in 'Honeycrisp' apples after air storage at 0 or 3 °C for 5 or 6 months. Soggy breakdown developed only in the second year of study and high incidences were reduced by preharvest 1-MCP treatments. Preharvest 1-MCP often reduced flesh firmness loss in 'Honeycrisp' during storage, especially during the second year of study, and with 1-MCP application closer to harvest. Malic acid content was often higher in apples with the preharvest 1-MCP spray closer to harvest. Overall, the most important benefit of preharvest 1-MCP treatments on 'Honeycrisp' apples was the reduction in soft scald development. Due to the high potential for substantial fruit losses from this disorder, the use of preharvest 1-MCP sprays on 'Honeycrisp' apples could be very advantageous. [ABSTRACT FROM AUTHOR]

Discusses postharvest storage procedures and oxidative stress. Cellular localization of oxygen radical production; Oxidative stress observations in the postharvest literature; Potential causes of poor understanding in postharvest studies of oxidative stress.

‘Honeycrisp’ apple [(Malus sylvestris (L.) Mill. var. domestica (Borkh.) Mansf.] fruit are susceptible to the storage disorders soggy breakdown, soft scald, and bitter pit. The effects of low and high temperature storage regimes (0 or 0.5 °C and 2.2, 2.8 or 3 °C, respectively), diphenylamine (DPA) treatment, and delays at 10 or 20 °C before storage, were investigated. Soggy breakdown and soft scald incidence is highest at the lowest temperatures of 0 or 0.5 °C and reduced or eliminated by storage at the higher temperatures. DPA sometimes reduced, but did not eliminate, soft scald. Both soggy breakdown and soft scald were markedly reduced or eliminated however, by keeping fruit at 10 or 20 °C before storage regardless of storage temperature. Bitter pit incidence was sometimes increased by delay treatments and storage at higher temperatures. Little effect of any treatment on firmness, soluble solids content, internal ethylene concentration (IEC), background color and titratable acidity was detected. [Copyright &y& Elsevier]

Visible (VIS)-near infrared (NIR) analysis (300–1140 nm) was performed on 15,000 kiwifruit (Actinidia chinensis Planch. var. chinensis ‘Hort16A’) sampled on three occasions across commercial harvest, for the purpose of predicting their storage potential during a 24-week cold (−1.5 to 1.5 °C) storage period. Destructive measurements for dry matter (DM), soluble solids content (SSC), and flesh colour were also determined on an additional set of cohorts (N=3600) to develop predictive models with NIR spectral properties. Nineteen percent of all fruit developed disorders during storage, the dominant loss category being rots on chill-injured fruit. Canonical discriminant analysis (CDA) was used to optimise the separation between the categories ‘sound’ fruit and those developing any disorder, using relative reflectance intensities at 227 wavelengths at harvest as quantitative variables. By using CDA classification and sorting, it was estimated that the overall incidence of disorders could have been reduced from 33.9 to 17.9% at our earliest harvest, and from 14.7 to 8.5% at the second harvest. Where the categories were ‘sound’ fruit and those affected by a single disorder—chill-injury—estimates based on classification by CDA across all harvests indicated a reduction in disorder incidence from 13.7 to 6.8% could have been achieved. Fruit that eventually developed chill-injury and rots were found to be those less mature at harvest, i.e., based on their NIR profile, the population of affected fruit contained less DM, appreciably lower SSC and greener flesh colour than their unaffected counterparts. Extrapolating these results to an on-line setting suggests classification into ‘sound’ and ‘affected’ groupings following NIR analysis at harvest could identify the least mature fruit and lead to a useful reduction in the incidence of postharvest storage disorders in this crop. [Copyright &y& Elsevier]

Patients with Hurler syndrome (mucopolysaccharidosis type-IH) and metachromatic leukodystrophy (MLD) develop significant skeletal and neurologic defects that limit their survival. Transplantation of allogeneic hematopoietic stem cells results in partial correction of the clinical manifestations. We postulated that some of these defects may be corrected by infusion of allogeneic, multipotential, bone marrow-derived mesenchymal stem cells (MSC). Patients with Hurler syndrome (n = 5) or MLD (n = 6) who previously underwent successful bone marrow transplantation from an HLA-identical sibling were infused with 2–10 × 106/kg MSCs, isolated and expanded from a bone marrow aspirate of the original donor. There was no infusion-related toxicity. In most recipients culture-purified MSCs at 2 days, 30–60 days and 6–24 months after MSC infusion remained of host type. In two patients the bone marrow-derived MSCs contained 0.4 and 2% donor MSCs by FISH 60 days after MSC infusion. In four patients with MLD there were significant improvements in nerve conduction velocities after MSC infusion. The bone mineral density was either maintained or slightly improved in all patients. There was no clinically apparent change in patients’ overall health, mental and physical development after MSC infusion. We conclude that donor allogeneic MSC infusion is safe and may be associated with reversal of disease pathophysiology in some tissues. The role of MSCs in the management of Hurler syndrome and MLD should be further evaluated. [ABSTRACT FROM AUTHOR]

Type I Gaucher disease (GD) is one of the most common glycolipid storage disorders in the Western hemisphere, with a wide spectrum of clinical manifestations that can mimic hematologic disorders. Approximately half of the patients have hepatomegaly and about 90% of all non-splenectomised patients have a spleen volume greater than 5 times the normal volume before starting enzyme replacement therapy (ERT). Anemia and/or thrombocytopenia, are common presenting features, whereas leucopenia occurs less frequently. The skeletal manifestations of GD, as lytic lesions and fractures, may suggest multiple myeloma. Deficiency of several coagulation factors and/or abnormal platelet function have been reported to be cause for bleeding. Serum hyperferritinemia without iron overload as well as polyclonal hypergammaglobulinemia are frequent findings. Patients with GD have been shown to have monoclonal gammopathy of undetermined significance and an elevated risk of hematological malignancies (multiple myeloma, AL amyloidosis and non-Hodgkin lymphoma). [ABSTRACT FROM AUTHOR]

Inborn errors of metabolism (IEM) encompass a group of monogenic diseases affecting both pediatric and adult populations and currently lack effective treatments. Some IEM such as familial hypercholesterolemia or X-linked protoporphyria are caused by gain of function mutations, while others are characterized by an impaired protein function, causing a metabolic pathway blockage. Pathophysiology classification includes intoxication, storage and energy-related metabolic disorders. Factors specific to each disease trigger acute metabolic decompensations. IEM require prompt and effective care, since therapeutic delay has been associated with the development of fatal events including severe metabolic acidosis, hyperammonemia, cerebral edema, and death. Rapid expression of therapeutic proteins can be achieved hours after the administration of messenger RNAs (mRNA), representing an etiological solution for acute decompensations. mRNA-based therapy relies on modified RNAs with enhanced stability and translatability into therapeutic proteins. The proteins produced in the ribosomes can be targeted to specific intracellular compartments, the cell membrane, or be secreted. Non-immunogenic lipid nanoparticle formulations have been optimized to prevent RNA degradation and to allow safe repetitive administrations depending on the disease physiopathology and clinical status of the patients, thus, mRNA could be also an effective chronic treatment for IEM. Given that the liver plays a key role in most of metabolic pathways or can be used as bioreactor for excretable proteins, this review focuses on the preclinical and clinical evidence that supports the implementation of mRNA technology as a promising personalized strategy for liver metabolic disorders such as acute intermittent porphyria, ornithine transcarbamylase deficiency or glycogen storage disease., (Copyright © 2022 Elsevier Inc. All rights reserved.)

1-Methylcyclopropene (1-MCP) maintained firmness of 'Macoun' apple (Malus xdomestica Borkh.) above 50 N after 90 to 100 days regular air storage when harvested at a starch index of 2.7 to 3.5, and after 50 days when harvested at a starch index past 4.0. Softening of 'Macoun' was slowed by 1-MCP in both preclimacteric fruit, but for a shorter duration in climacteric fruit. 1-MCP reduced but did not eliminate the occurrence of senescent breakdown. The effect of 1-MCP on coreline browning was inconsistent, reducing its occurrence in 2002 and 2003, but increasing its occurrence in 2001 when fruit were harvested at an advanced maturity. [ABSTRACT FROM AUTHOR]

Gaucher Disease is an autosomal recessive disease caused by the accumulation of glucocerebrosidase due to deficiency in lysosomal glucocerebrosidase. Thalassaemia trait is asymptomatic and is usually an incidental diagnosis. Both thalassaemia and Gaucher disease can have similar haematologic manifestations and hence, their coexistence causes diagnostic dilemma. Our patient presented at one-and-a-half years with weakness, pallor, failure to thrive and massive hepatosplenomegaly. Clinical examination and history pointed to a lipid storage disease. Peripheral smear revealed microcytic hypochromic cells and nucleated red cells with haemolytic blood picture. Thalassaemia trait was indicated on haemoglobin variant analysis using High Performance Liquid Chromatography. Liver biopsy, bone marrow aspirate and therapeutic splenectomy revealed Gaucher-like cells. Type 1 Gaucher disease can be clinically asymptomatic as well as present with massive liver and spleen enlargement and involvement of bone marrow. Anaemia, splenomegaly and thrombocytopenia are the usual presentations at diagnosis, similar to the haemoglobinopathies. Gaucher-like cells with normal beta-glucocerebrosidase (pseudo-Gaucher cells) are seen in thalassaemia, leukaemia, mycobacterial infections and myeloma. Gaucher disease coexisting with thalassaemia trait is uncommon. We report the occurrence of thalassaemia trait and Gaucher disease in a child, which resulted in confusion regarding the haematological diagnosis. This report highlights the necessity of independent establishment of the diagnosis in every patient so that appropriate management decisions are taken. [ABSTRACT FROM AUTHOR]

Background: Glycogen storage disease type VI (GSD-VI) presents with failure to thrive and also fibrosis in some cases, without cirrhosis. Case characteristics: 2½-year-old girl presented with short stature, transaminase elevation and significant fibrosis, suggesting GSD-III. Observation: A pathogenic mutation in PYGL gene suggested GSD-VI. Message: GSD-VI should be a differential diagnosis whenever GSD-III is suspected. [ABSTRACT FROM AUTHOR]