Vitamin D is essential for the normal mineralization of bones during childhood. Although diet and adequate sun exposure should provide enough of this nutrient, there is a high prevalence of vitamin D ...deficiency rickets worldwide. Children with certain conditions that lead to decreased vitamin D production and/or absorption are at the greatest risk of nutritional rickets. In addition, several rare genetic alterations are also associated with severe forms of vitamin-D-resistant or -dependent rickets. Although vitamin D3 is the threshold nutrient for the vitamin D endocrine system (VDES), direct measurement of circulating vitamin D3 itself is not a good marker of the nutritional status of the system. Calcifediol (or 25(OH)D) serum levels are used to assess VDES status. While there is no clear consensus among the different scientific associations on calcifediol status, many clinical trials have demonstrated the benefit of ensuring normal 25(OH)D serum levels and calcium intake for the prevention or treatment of nutritional rickets in childhood. Therefore, during the first year of life, infants should receive vitamin D treatment with at least 400 IU/day. In addition, a diet should ensure a normal calcium intake. Healthy lifestyle habits to prevent vitamin D deficiency should be encouraged during childhood. In children who develop clinical signs of rickets, adequate treatment with vitamin D and calcium should be guaranteed. Children with additional risk factors for 25(OH)D deficiency and nutritional rickets should be assessed periodically and treated promptly to prevent further bone damage.
Hybridization is known to have a creative role in plant evolution. However, it can also have negative effects on parental species. Onopordum is a large genus whose species frequently hybridize. In ...the Southwest Iberian Peninsula, the rare O. hinojense co‐occurs with the widely distributed O. nervosum, and hybrids between these two taxa have been described as O. × onubense. In this study we determine the extinction risk in a hybrid zone, both for hybrids and parentals, using analyses of morphological and cytogenetic traits as well as genetic markers and demographic models. To investigate the introgression process we used amplified fragment length polymorphism (AFLP) markers, Bayesian analyses and genome scan methods. Morphology, genome size and molecular markers confirmed homoploid hybridization and also indicated unidirectional backcrossing of F₁hybrids with O. nervosum, which is likely to swamp O. hinojense, the parental with lower pollen size and a very low fruit set (8%). Genome scan methods revealed several loci significantly deviating from neutrality. Finally, our demographic modeling indicated that the higher fitness of O. nervosum threats the survival of O. hinojense by demographic swamping. Our study provides strong new evidence for a scenario of rapid extinction by unidirectional introgression and demographic swamping. The multifaceted approach used here sheds new light on the role of introgression in plant extinctions.
Artificial intelligence (AI) and machine learning (ML) models continue to evolve the clinical decision support systems (CDSS). However, challenges arise when it comes to the integration of AI/ML into ...clinical scenarios. In this systematic review, we followed the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA), the population, intervention, comparator, outcome, and study design (PICOS), and the medical AI life cycle guidelines to investigate studies and tools which address AI/ML-based approaches towards clinical decision support (CDS) for monitoring cardiovascular patients in intensive care units (ICUs). We further discuss recent advances, pitfalls, and future perspectives towards effective integration of AI into routine practices as were identified and elaborated over an extensive selection process for state-of-the-art manuscripts.
Studies with available English full text from PubMed and Google Scholar in the period from January 2018 to August 2022 were considered. The manuscripts were fetched through a combination of the search keywords including AI, ML, reinforcement learning (RL), deep learning, clinical decision support, and cardiovascular critical care and patients monitoring. The manuscripts were analyzed and filtered based on qualitative and quantitative criteria such as target population, proper study design, cross-validation, and risk of bias.
More than 100 queries over two medical search engines and subjective literature research were developed which identified 89 studies. After extensive assessments of the studies both technically and medically, 21 studies were selected for the final qualitative assessment.
Clinical time series and electronic health records (EHR) data were the most common input modalities, while methods such as gradient boosting, recurrent neural networks (RNNs) and RL were mostly used for the analysis. Seventy-five percent of the selected papers lacked validation against external datasets highlighting the generalizability issue. Also, interpretability of the AI decisions was identified as a central issue towards effective integration of AI in healthcare.
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•A lower COVID-19 mortality rate was observed in HIV patients.•Similar hospitalization and ICU admission rates were observed in HIV patients.•Age and comorbidities also represent the ...main poor COVID-19 prognostic factors in PLHIV.•HIV severity or type of antiretroviral treatment does not influence the COVID-19 outcome.
Information on how COVID-19 affects people living with HIV (PLHIV) remains scarce.
An observational study was conducted in four public hospitals in Madrid. All HIV patients with confirmed or suspected COVID-19 were included and compared with COVID-19 patients without HIV infection.
Sixty-three patients with HIV infection and confirmed or suspected COVID-19 were analyzed. The median age was 46 years (IQR: 37–56 years), and 88.9% were men. The median duration of HIV infection was 10.8 years (IQR: 6.5–16.8 years), and 96.8% were on antiretroviral therapy. 84.1% had previous comorbidities. The most common symptoms were fever (66.1%), cough (66.1%) and dyspnea (46.8%). Pneumonia was found in 47.5%, 28.6% of patients had severe disease, and 32.3% were admitted to hospital. The ICU admission rate and the mortality rate were both 3.17%. A significant association was observed between age, arterial hypertension, overweight, and diabetes mellitus and the severity of COVID-19. No association was observed between HIV-related factors and the severity of COVID-19. The rate of COVID-19 in HIV-patients was 1.68%. Similar hospitalization (31.74% vs 32.57%) and ICU admission (3.17% vs 2%) rates were observed with non-HIV infected patients. A lower mortality rate during hospitalization (10% vs 21.37%) and a lower global mortality rate (3.17% vs 6.96%) were also observed.
Established poor prognostic factors for COVID-19 patients, such as age and comorbidities, remain the main determinants for PLHIV. Neither the HIV severity nor the type of ARV treatment seem to influence the outcome of COVID-19. Large prospective cohorts are needed in order to establish the differences between HIV-positive and HIV-negative patients.
Background: Exposure to hypoxia at high altitude is increasingly being recognized as a risk factor for hypertension.
Objective: To compare the prevalence of hypertension in Indigenous Argentinean ...children living at high altitude with that reported in the 2011-2012 National Health and Nutrition Examination Survey (NHANES) of US children.
Methods: A cross-sectional study of 811 (400 females) Argentinean Indigenous school children (8-14 years) from San Antonio de los Cobres (SAC) was performed between 2011-2014. SAC is located in the Andean foothills 3,750 m above sea level. 98% of its population is Indigenous. Anthropometric, BP, and biochemical data were obtained from SAC and compared with those of 1279 (625 females) US children. Pre-hypertension and hypertension were defined by BP≥90th to <95th percentile or ≥95th percentile, respectively.
Results: The prevalence of obesity was significantly lower in SAC (22; 2.7%) than in the US (310; 24.3%). However, the prevalence of hypertension was significantly higher in SAC (129; 15.9%) than in US children (35; 2.9%). Multiple logistic regression analyses showed that SAC children had four times the odds of having pre-hypertension compared with US children (OR 4.47; 95% CI 3.29-6.08), and eight times the odds of presenting hypertension (OR 8.36; 95% CI 5.36-13.05), adjusted for age, gender, and BMI.
Conclusions: This study shows a higher prevalence of hypertension in Indigenous Argentinean children living at high altitude compared with US children. Various factors such as high hemoglobin levels, lifestyle behavior, and genetics may have an influence on BP in high altitude Indigenous SAC children.
Abbreviations: BP: Blood pressure; SAC: San Antonio de los Cobres; CDC: Centers for Disease Control and Prevention; NHANES: National Health and Nutrition Examination Survey
Celotno besedilo
Dostopno za:
DOBA, IJS, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
The main goal of this study was to assess the influence of the microencapsulation on the oil chemical composition and its oxidative stability. Factors such as microcapsule wall constituents and the ...addition of the antioxidant butylhydroxytoluene (BHT) were investigated in order to establish the most appropriate conditions to ensure no alteration of the extra-virgin olive oil chemical characteristics. The microencapsulation effectiveness was determined in base of process yield and the microencapsulation efficiency. Highest encapsulation yields were achieved when maltodextrin, carboxymethylcellulose (99.79±0.51%) and lecithin were used as encapsulation agents and the ratio of oil-wall material was 1:1.5. Stability studies were achieved by placing encapsulated oil and un-encapsulated oil in heated chambers at 30°C during 4months. Oxidative stability and oil quality studies were periodically assessed. It was concluded that the presence of protein constituents in the microcapsule wall material extended the shelf-life of the microencapsulated olive oil (protein-based model microencapsulated oil was unalterable for 9 to 11months). For this later model, the addition of antioxidant additives did not significantly increase the oil stability.
► Protein-based microcapsules protected the composition of EVOs. ► Protein-based microcapsules protected the oxidative stability of EVOs. ► Carbohydrate-based microcapsules had higher microencapsulation efficiency. ► The presence of antioxidants does not improve oil stability.
Diagnosis of mature-onset diabetes of the young (MODY), a non-autoimmune monogenic form of diabetes mellitus, is confirmed by genetic testing. However, a positive genetic diagnosis is achieved in ...only around 50% of patients with clinical characteristics of this disease.
We evaluated the diagnostic utility of transcriptomic analysis in patients with clinical suspicion of MODY but a negative genetic diagnosis. Using Nanostring nCounter technology, we conducted transcriptomic analysis of 19 MODY-associated genes in peripheral blood samples from 19 patients and 8 healthy controls. Normalized gene expression was compared between patients and controls and correlated with each patient's biochemical and clinical variables. Z-scores were calculated to identify significant changes in gene expression in patients versus controls. Only 7 of the genes analyzed were detected in peripheral blood. HADH expression was significantly lower in patients versus controls. Among patients with suspected MODY, GLIS3 expression was higher in obese versus normal-weight patients, and in patients aged < 25 versus > 25 years at diabetes onset. Significant alteration with respect to controls of any gene was observed in 57.9% of patients.
Although blood does not seem to be a suitable sample for transcriptomic analysis of patients with suspected MODY, in our study, we detected expression alterations in some of the genes studied in almost 58% of patients. That opens the door for future studies that can clarify the molecular cause of the clinic of these patients and thus be able to maintain a more specific follow-up and treatment in each case.
Variants of
are often found in individuals with 46,XY disorders of sex development (DSD) and manifest with a very broad spectrum of clinical characteristics and variable sex hormone levels. Such ...complex phenotypic expression can be due to the inheritance of additional genetic hits in DSD-associated genes that modify sex determination, differentiation and organ function in patients with heterozygous
variants. Here we describe the clinical, biochemical and genetic features of a series of seven patients harboring monoallelic variants in the
gene. We tested the transactivation activity of novel
variants. We additionally included six of these patients in a targeted diagnostic gene panel for DSD and identified a second genetic hit in known DSD-causing genes
,
and
in three individuals. Our study increases the number of
variants related to 46,XY DSD and supports the hypothesis that a digenic mode of inheritance may contribute towards the broad spectrum of phenotypes observed in individuals with a heterozygous
variation.
Despite the enormous amount of molecular data obtained over the years, the molecular etiology of chronic lymphocytic leukemia (CLL) is still largely unknown. All that information has enabled the ...development of new therapeutic approaches that have improved life expectancy of the patients but are still not curative. We must increase our knowledge of the molecular alterations responsible for the characteristics common to all CLL patients. One of such characteristics is the poor correlation between mRNA and protein expression, that suggests a role of post-translational mechanisms in CLL physiopathology. Drugs targeting these processes have indeed demonstrated an effect either alone or in combination with other aimed at specific pathways. A recent article unveiled an increment in ubiquitin-like modifications in CLL, with many protein members of relevant pathways affected. Interestingly, the inhibition of the NEDD8-activating protein NAE reverted a substantial number of those modifications. The present review gets the scarce data published about the role of NEDDylation in CLL together and establishes connections to what is known from other neoplasias, thus providing a new perspective to the underlying mechanisms in CLL.
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