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Background: Hypovitaminosis D is a common health problem. The purpose of this study was to investigate the inter-relationship between serum 25(OH)D levels and paternal and maternal vitamin D status in a sample of snoring children., Methods: We selected 137 participants for whom serum 25(OH)D had been measured and underwent overnight polysomnography evaluation. Serum glucose, lipids, liver enzymes, parathyroid hormone, insulin, and glycated hemoglobin were also measured. Glucose and insulin levels were used to estimate insulin resistance with the homeostasis model assessment (HOMA-IR)., Results: Vitamin D insufficiency (<30 ng/mL) and deficiency (<20 ng/mL) were found in 40.9 and 17.5% of children, respectively. After adjustments for age, BMI z-score and seasonality, the odds ratio for risk of vitamin D insufficiency according to the vitamin D status of parents were: OR (95% CI): paternal insufficiency 15.1 (2.7-35.7), p = 0.002; maternal insufficiency 7.2 (2.4-22), p = 0.001. When children with vitamin D deficiency were analyzed separately, serum 25(OH)D concentration was found to be associated with the apnea-hypopnea index (r = -0.647, p = 0.009) and respiratory arousal index (r = -0.669, p = 0.034)., Conclusions: Family patterns of vitamin D could be helpful for the early identification of children at risk of metabolic and/or sleep disturbances and when considering strategies to improve vitamin D status., Impact: Family patterns of vitamin D could be helpful for the early identification of snoring children at risk of metabolic and/or sleep disturbances. Significant associations were found between serum 25-hydroxyvitamin D (25(OH)D) concentrations in children and their parents. An inverse association between 25(OH)D levels and OSA severity was detected in deficient vitamin D children. Children with insufficient and deficient vitamin D status tended to have a worse metabolic profile, so strategies are needed to improve vitamin D status., (© 2021. The Author(s), under exclusive licence to the International Pediatric Research Foundation, Inc.)

Background: Although some evidence suggests an association between obstructive sleep apnea (OSA) and gestational diabetes mellitus (GDM), its consequences still remain largely unknown. We sought to determine whether OSA is associated with higher inflammation and sympathetic levels in GDM, and to relate them with insulin resistance and perinatal outcomes., Methods: OSA was identified by polysomnography and defined as an apnea-hypopnea index of ≥ 5 h -1 . Plasma cytokines (TNF-α, IL-1β, IL-6, IL-8, IL-10), metanephrine, and normetanephrine were determined by immunoassays., Results: We included 17 patients with GDM and OSA and 34 without OSA. Women with GDM and OSA had higher normetanephrine concentrations [81 IQR (59-134) vs. 68 (51-81) pg/mL]. No differences in the inflammatory profile were found, while IL-1β was higher in patients with mean nocturnal oxyhemoglobin saturation ≤ 94%. We found positive correlations between increased sympathetic activation and IL-1β, with obstructive apneas, while time in REM showed an inverse relationship with IL-1β and metanephrine. Furthermore, IL-10 was inversely related with time in sleep stages 1-2, and with the arousal index, and it was positively related with time in slow-wave sleep. Significant correlations were also found between IL-1β and insulin resistance. There were no significant differences in neonatal characteristics; however, we found inverse relationships between IL-10 and birth weight (BW), and percentile of BW., Conclusions: OSA increased sympathetic activity, and IL-1β concentration was higher in patients with GDM with lower nocturnal oxygenation, all of which were related with obstructive events, and time in REM. Moreover, IL-1β was related with insulin resistance, and IL-10 inversely correlated with neonatal BW., (© 2022. The Author(s).)

Oculopharyngeal muscular dystrophy (OPMD) is a late-onset disorder characterized by progressive weakness and degeneration of specific muscles. OPMD is due to extension of a polyalanine tract in poly(A) binding protein nuclear 1 (PABPN1). Aggregation of the mutant protein in muscle nuclei is a hallmark of the disease. Previous transcriptomic analyses revealed the consistent deregulation of the ubiquitin-proteasome system (UPS) in OPMD animal models and patients, suggesting a role of this deregulation in OPMD pathogenesis. Subsequent studies proposed that UPS contribution to OPMD involved PABPN1 aggregation. Here, we use a Drosophila model of OPMD to address the functional importance of UPS deregulation in OPMD. Through genome-wide and targeted genetic screens we identify a large number of UPS components that are involved in OPMD. Half dosage of UPS genes reduces OPMD muscle defects suggesting a pathological increase of UPS activity in the disease. Quantification of proteasome activity confirms stronger activity in OPMD muscles, associated with degradation of myofibrillar proteins. Importantly, improvement of muscle structure and function in the presence of UPS mutants does not correlate with the levels of PABPN1 aggregation, but is linked to decreased degradation of muscle proteins. Oral treatment with the proteasome inhibitor MG132 is beneficial to the OPMD Drosophila model, improving muscle function although PABPN1 aggregation is enhanced. This functional study reveals the importance of increased UPS activity that underlies muscle atrophy in OPMD. It also provides a proof-of-concept that inhibitors of proteasome activity might be an attractive pharmacological approach for OPMD., Competing Interests: I have read the journal’s policy and the authors of this manuscript have the following competing interests: The authors declare that AC (2%) and MS (3%) are co-inventors of the patent “Proteasome inhibitors for treating a disorder related to an accumulation of a nondegraded abnormal protein or a cancer”, WO/2016/113357 that has been published on July 21, 2016.

Obstructive sleep apnea (OSA) affects between 2% and 4% in children and there is a search for new biomarkers that can be useful both in the diagnosis and in the evolution of the disease. The surfactant protein D (SP-D) is a collection that is part of the innate immune system exerting an anti-inflammatory and antimicrobial effect. Thus, the objective of this study was to evaluate the concentration of SP-D in the suspect OSA pediatric population. A total of 178 children were recruited in this prospective study. Blood samples, sleep parameters, feeding habits, anthropometric, sociodemographic, and family data were collected. Specific biochemical determinations were made, and the plasmatic concentrations of SP-D were measured by enzyme-linked immunosorbent assay. We found no statistical correlation between the SP-D concentration and the apnea-hypopnea index (AHI) from the data. Nevertheless, the changes in SP-D levels could be correlated to a large extent by the arousals that often go along with hypopneas (r = -0.258, p = 0.011 unadjusted; r = -0.258, p = 0.014 adjusted by age and body mass inded [BMI] Z-score). Intermittent hypoxia was correlated with C-reactive protein levels (r = 0.547, p < 0.001 unadjusted; r = 0.542, p < 0.001 adjusted by age and BMI Z-score). Although AHI and SP-D did not appear to correlate, a secondary analysis suggests that sleep fragmentation, which is produced by arousals, may do, and further research is needed to determine the mechanisms by which changes in SP-D occur in OSA., (© 2021 Wiley Periodicals LLC.)

Background and Objectives: Available evidence suggests a familial basis for OSA. The aim of the present study was to assess the potential influences of parental OSA in predicting the diagnosis and severity of OSA in snoring children., Methods: Observational study, we prospectively enrolled 84 children and their parents. A complete nocturnal polysomnography was performed. Children were categorized into 3 severity groups according to the apnea-hypopnea index (AHI<1h -1 , AHI≥1h -1 to AHI<5h -1 , and AHI≥5h -1 ). Adults were grouped according two criteria (AHI≥5h -1 and ≥10h -1 )., Results: There were no significant differences in age, gender, BMI and BMI z-score among groups. Among the children, 54.7% had an AHI≥1h -1 and 21.4% had an AHI≥5h -1 . Overall, we observed that 60.7% of fathers and 23.8% of mothers of our population had OSA (AHI≥5h -1 ). The prevalence of fathers with OSA increases with the children's severity (83% in the group of children with moderate-severe OSA, p=0.035). The odds of having moderate-severe pediatric OSA (AHI≥5h -1 ) were more than 4 times higher among children with a father with AHI≥5h -1 (OR: 4.92, 95% CI: 1.27-19.06; p=0.021). There was no evidence of any maternal influence on OSA severity among the children studied., Conclusions: Our findings suggest a high prevalence of OSA among the family members studied with an increased association of childhood OSA with paternal OSA. Prediction of OSA risk among children can be significantly improved by adding data on paternal OSA status., (Copyright © 2020 SEPAR. Published by Elsevier España, S.L.U. All rights reserved.)

The necrotrophic plant-pathogen fungus Botrytis cinerea produces multicellular appressoria dedicated to plant penetration, named infection cushions (IC). A microarray analysis was performed to identify genes upregulated in mature IC. The expression data were validated by RT-qPCR analysis performed in vitro and in planta, proteomic analysis of the IC secretome and biochemical assays. 1231 upregulated genes and 79 up-accumulated proteins were identified. The data support the secretion of effectors by IC: phytotoxins, ROS, proteases, cutinases, plant cell wall-degrading enzymes and plant cell death-inducing proteins. Parallel upregulation of sugar transport and sugar catabolism-encoding genes would indicate a role of IC in nutrition. The data also reveal a substantial remodelling of the IC cell wall and suggest a role for melanin and chitosan in IC function. Lastly, mutagenesis of two upregulated genes in IC identified secreted fasciclin-like proteins as actors in the pathogenesis of B. cinerea. These results support the role of IC in plant penetration and also introduce other unexpected functions for this fungal organ, in colonization, necrotrophy and nutrition of the pathogen., (© 2021 Society for Applied Microbiology and John Wiley & Sons Ltd.)

Objective: Increased blood coagulation might be one important mechanism linking obstructive sleep apnea (OSA) with cardiovascular diseases. We tested the association between several hemostatic parameters and sleep breathing-related variables in a representative pediatric population with a clinical suspicion of OSA., Methods: Polysomnography was performed in 152 snoring children to diagnose OSA. Anthropometric and clinical data were registered and venous blood samples were collected for the measurement of platelet count, plateletcrit, platelet distribution width (PDW), mean platelet volume (MPV), prothrombin time (PT), activated partial thromboplastin time (aPTT), fibrinogen and C-reactive protein., Results: Children with OSA had significantly higher platelet count, plateletcrit and PDW compared with those without OSA. After controlling for the anthropometric characteristics (age, gender, body mass index (BMI) z-score), platelet count negatively correlated with minimum SaO 2 while the plateletcrit correlated with time with SaO 2 <90% and MPV correlated with apnea-hypopnea index. PT and PT international normalized ratio correlated with mean SaO 2 and aPTT correlated with the oxygen desaturation index., Conclusion: Our findings suggest that different OSA-related effects may be factors contributing to an enhanced coagulability in pediatric OSA. Measures reflecting apnea severity and disrupted sleep were associated with clotting factor changes independent of covariates affecting hemostatic function., (Copyright © 2018 Elsevier B.V. All rights reserved.)

Background and Objective: Re-admission to hospital by the elderly is a frequent event that is associated with complications. The aim of this article is to describe a randomised clinical trial protocol which has the aim of describing and comparing the impact of a home-based intervention by Occupational Therapists (OT) in the likelihood of re-admission at 6 months., Material and Method: Randomised controlled trial conducted in medical units of the "Hospital Clínico de la Universidad de Chile" and "Hospital de la Fuerza Aérea de Chile", with 217 patients aged 60 years or older admitted for acute or decompensated chronic disease, provided that they have a person of reference after hospital discharge. The control group consists of the usual care regarding post-discharge patients. This will be compared to the experimental group that includes a home visit from OT on two occasions over a six-month period, who will apply a multicomponent intervention. Informed consent will be requested with the sociodemographic and hospital admission information, functional (Barthel index; Lawton & Brody Scale) and cognitive performance (Short Portable Mental Status Questionnaire; Functional Activities Questionnaire; Confusion Assessment Method), and comorbidity (Cumulative Illness Rating Scale for Geriatrics). Both groups will receive a telephone follow-up at 4, 12 and 24 weeks after hospital discharge., Results: The intervention will reduce the rate of hospital re-admissions by at least 40% at 6 months compared with usual care., Conclusion: It will be useful to know the components that reduce the risk of hospital re-admissions and improve hospital discharge healthcare for elderly., (Copyright © 2018 SEGG. Publicado por Elsevier España, S.L.U. All rights reserved.)