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Background/Objectives: Parenteral nutrition (PN) is used when enteral feeding is not possible. It is a complex mixture of nutrients that must meet a patient's needs but can face stability issues, such as lipid emulsion destabilisation and precipitate formation. Stability studies are complex, and the methodologies used are very varied in the literature. In addition, many studies are outdated and use outdated components. This study conducts a stability analysis of PN solutions using optical microscopy. Methods: Samples were prepared according to clinical practice standards and previous studies. We used a counting chamber for optical microscopic observations and different storage conditions (RT, 4 °C 1–14 days). Results: Precipitates larger than 5 µm were found in 8 out of 14 samples after 14 days of storage at room temperature, and none were observed in refrigerated samples. More lipid globules larger than 5 µm were detected in samples stored at room temperature than in those stored in a refrigerator after 14 days. Additionally, the number of large globules generally increased from day 1 to day 14 in most samples. Conclusions: The observed precipitates were probably calcium oxalate crystals, the formation of which is possible in PN but is not expected under the usual storage conditions in a hospital environment. Prolonged storage time and storage at room temperature increases the formation of these precipitates. These findings highlight the importance of using filters during both the preparation and administration of PN to prevent large particles from reaching patients. [ABSTRACT FROM AUTHOR]

(1) Background: parenteral nutrition (PN) is indispensable for patients unable to receive oral or enteral feeding. However, the complexity of PN solutions presents challenges regarding stability and compatibility. Precipitation reactions may occur. The most frequent is the formation of calcium phosphate (Ca-P). The different factors influencing these reactions must be considered to ensure patient safety. (2) Methods: eight paediatric PN solutions were prepared, following standard protocols. Samples were stored at room temperature and in a refrigerator. Electron microscopy, coupled with energy dispersive X-ray spectroscopy (EDS), was employed. Precipitates were analysed for composition and morphology. (3) Results: precipitates were observed in all samples, even at day 0. Crystalline structures, predominantly composed of calcium or magnesium, sometimes associated with chlorine or phosphorus, were detected. Additionally, amorphous precipitates, contained heterogeneous compositions, including unexpected elements, were identified. (4) Conclusions: various precipitates, primarily calcium- or magnesium-based, can form in PN solutions, although it is not expected that they can form under the real conditions of use. Calcium oxalate precipitation has been characterised, but the use of organic calcium and phosphate salts appears to mitigate calcium phosphate precipitation. Electron microscopy provides interesting results on NP precipitation, but sample preparation may present technical limitations that affect the interpretation of the results. [ABSTRACT FROM AUTHOR]

Background Alström syndrome (ALMS; #203800) is an ultrarare monogenic recessive disease. This syndrome is associated with variants in the ALMS1 gene, which encodes a centrosome-associated protein involved in the regulation of several ciliary and extraciliary processes, such as centrosome cohesion, apoptosis, cell cycle control and receptor trafficking. The type of variant associated with ALMS is mostly complete loss-of-function variants (97%) and they are mainly located in exons 8, 10 and 16 of the gene. Other studies in the literature have tried to establish a genotype–phenotype correlation in this syndrome with limited success. The difficulty in recruiting a large cohort in rare diseases is the main barrier to conducting this type of study. Methods In this study we collected all cases of ALMS published to date. We created a database of patients who had a genetic diagnosis and an individualised clinical history. Lastly, we attempted to establish a genotype–phenotype correlation using the truncation site of the patient’s longest allele as a grouping criteria. Results We collected a total of 357 patients, of whom 227 had complete clinical information, complete genetic diagnosis and meta-information on sex and age. We have seen that there are five variants with high frequency, with p.(Arg2722Ter) being the most common variant, with 28 alleles. No gender differences in disease progression were detected. Finally, truncating variants in exon 10 seem to be correlated with a higher prevalence of liver disorders in patients with ALMS. Conclusion Pathogenic variants in exon 10 of the ALMS1 gene were associated with a higher prevalence of liver disease. However, the location of the variant in the ALMS1 gene does not have a major impact on the phenotype developed by the patient. [ABSTRACT FROM AUTHOR]

Introduction: the Global Leadership Initiative on Malnutrition (GLIM) was created to unify the diagnosis of malnutrition worldwide. The main objective of this work is to evaluate the validity of the GLIM criteria for diagnosing malnutrition in a population over 65 years of age living in a nursing home. In addition, the order of importance of the GLIM criteria for diagnosing malnutrition was also analyzed., Material and Methods: a cross-sectional study was carried out with 130 older adults institutionalized in a nursing home. To study the validity of the GLIM criteria, sensitivity and specificity were calculated and a Receiver Operating Characteristic (ROC) curve was calculated using the MNA questionnaire as the reference diagnostic method. A Lasso regression model was used to determine the order of importance of the criteria., Results: according to GLIM and MNA the prevalence of malnutrition was 26.2 % and 18.5 %, respectively. The GLIM criteria were found to have a sensitivity of 100 %, a specificity of 91 % and a very good level of precision (AUC = 0.95). The order of importance of the criteria from highest to lowest are loss of muscle mass, weight loss, presence of inflammation, low BMI and decreased nutrient intake or assimilation., Conclusions: the GLIM criteria presented a satisfactory level of validity and are therefore an acceptable method to diagnose malnutrition in institutionalized older adults.

Background: Alström syndrome (ALMS; #203800) is an ultrarare monogenic recessive disease. This syndrome is associated with variants in the ALMS1 gene, which encodes a centrosome-associated protein involved in the regulation of several ciliary and extraciliary processes, such as centrosome cohesion, apoptosis, cell cycle control and receptor trafficking. The type of variant associated with ALMS is mostly complete loss-of-function variants (97%) and they are mainly located in exons 8, 10 and 16 of the gene. Other studies in the literature have tried to establish a genotype-phenotype correlation in this syndrome with limited success. The difficulty in recruiting a large cohort in rare diseases is the main barrier to conducting this type of study., Methods: In this study we collected all cases of ALMS published to date. We created a database of patients who had a genetic diagnosis and an individualised clinical history. Lastly, we attempted to establish a genotype-phenotype correlation using the truncation site of the patient's longest allele as a grouping criteria., Results: We collected a total of 357 patients, of whom 227 had complete clinical information, complete genetic diagnosis and meta-information on sex and age. We have seen that there are five variants with high frequency, with p.(Arg2722Ter) being the most common variant, with 28 alleles. No gender differences in disease progression were detected. Finally, truncating variants in exon 10 seem to be correlated with a higher prevalence of liver disorders in patients with ALMS., Conclusion: Pathogenic variants in exon 10 of the ALMS1 gene were associated with a higher prevalence of liver disease. However, the location of the variant in the ALMS1 gene does not have a major impact on the phenotype developed by the patient., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)