Improving Land-Surface Model Hydrology: Is an Explicit Aquifer Model Better than a Deeper Soil Profile?

Land surface models (LSMs) are computer programs, similar to weather and climate prediction models, which simulate the storage and movement of water (including soil moisture, snow, evaporation, and runoff) after it falls to the ground as precipitation. It is not currently possible to measure all of the variables of interest everywhere on Earth with sufficient accuracy. Hence LSMs have been developed to integrate the available information, including satellite observations, using powerful computers, in order to track water storage and redistribution. The maps are used to improve weather forecasts, support water resources and agricultural applications, and study the Earth's water cycle and climate variability. Recently, the models have begun to simulate groundwater storage. In this paper, we compare several possible approaches, and examine the pitfalls associated with trying to estimate aquifer parameters (such as porosity) that are required by the models. We find that explicit representation of groundwater, as opposed to the addition of deeper soil layers, considerably decreases the sensitivity of modeled terrestrial water storage to aquifer parameter choices. We also show that approximate knowledge of parameter values is not sufficient to guarantee realistic model performance: because interaction among parameters is significant, they must be prescribed as a harmonious set

Genetic Variations and Diseases in UniProtKB/Swiss-Prot: The Ins and Outs of Expert Manual Curation.

During the last few years, next-generation sequencing (NGS) technologies have accelerated the detection of genetic variants resulting in the rapid discovery of new disease-associated genes. However, the wealth of variation data made available by NGS alone is not sufficient to understand the mechanisms underlying disease pathogenesis and manifestation. Multidisciplinary approaches combining sequence and clinical data with prior biological knowledge are needed to unravel the role of genetic variants in human health and disease. In this context, it is crucial that these data are linked, organized, and made readily available through reliable online resources. The Swiss-Prot section of the Universal Protein Knowledgebase (UniProtKB/Swiss-Prot) provides the scientific community with a collection of information on protein functions, interactions, biological pathways, as well as human genetic diseases and variants, all manually reviewed by experts. In this article, we present an overview of the information content of UniProtKB/Swiss-Prot to show how this knowledgebase can support researchers in the elucidation of the mechanisms leading from a molecular defect to a disease phenotype

The Global Groundwater Crisis

Groundwater depletion the world over poses a far greater threat to global water security than is currently acknowledged

Cutaneous metastasis from colorectal cancer: Making light on an unusual and misdiagnosed event

Cutaneous metastasis from solid tumors is a rare event and usually represents a late occurrence in the natural history of an advanced visceral malignancy. Rarely, cutaneous metastasis has been described in colorectal cancer patients. The most frequent cutaneous site of colorectal metastasis is the surgical scar in the abdomen following the removal of the primary malignancy, followed by the extremities, perineum, head, neck, and penis. Metastases to the thigh and back of the trunk are anecdotical. Dermatological diagnosis of cutaneous metastasis can be quite complex, especially in unusual sites, such as in the facial skin or thorax and in cases of single cutaneous lesions since metastasis from colorectal cancer is not usually the first clinical hypothesis, leading to misdiagnosis. To date, due to the rarity of cutaneous metastasis from colorectal cancer, little evidence, most of which is based on case reports and very small case series, is currently available. Therefore, a better understanding of the clinic-pathological characteristics of this unusual metastatic site represents an unmet clinical need. We present a large series of 29 cutaneous metastases from colorectal cancer with particular concerns regarding anatomic localization and the time of onset with respect to primitive colorectal cancer and visceral metastases

Correlation of physical and cognitive impairment in diabetic and hypertensive frail older adults

Background: Diabetes and hypertension are common in older adults and represent established risk factors for frailty. Frailty is a multidimensional condition due to reserve loss and susceptibility to stressors with a high risk of death, hospitalizations, functional and cognitive impairment. Comorbidities such as diabetes and hypertension play a key role in increasing the risk of mortality, hospitalization, and disability. Moreover, frail patients with diabetes and hypertension are known to have an increased risk of cognitive and physical impairment. Nevertheless, no study assessed the correlation between physical and cognitive impairment in frail older adults with diabetes and hypertension. Methods: We evaluated consecutive frail older patients with diabetes and hypertension who presented at ASL (local health unit of the Italian Ministry of Health) Avellino, Italy, from March 2021 to October 2021. The inclusion criteria were: a previous diagnosis of diabetes and hypertension with no evidence of secondary causes; age > 65 years; a frailty status; Montreal Cognitive Assessment (MoCA) score < 26. Results: 179 patients successfully completed the study. We found a strong and significant correlation between MoCA score and 5-m gait speed test (r: 0.877; p < 0.001). To further verify our results, we performed a linear multivariate analysis adjusting for potential confounding factors, with MoCA score as dependent variable, which confirmed the significant association with glycemia (p < 0.001). Conclusions: This is the first study showing a significant correlation between 5-m gait speed test and MoCA score in frail diabetic and hypertensive older adults

Emergence of ceftazidime/avibactam resistance in KPC-8–producing Klebsiella pneumoniae in South America

Klebsiella pneumoniae is one of the so-called ESKAPE pathogens. These organisms are the main cause of nosocomial infections worldwide, causing life-threatening infections amongst critically ill and immunocompromised individuals. They are characterized by drug resistance mechanisms. Klebsiella pneumoniae carbapenemase (KPC)-producing isolates display resistance to multiple antimicrobial agents, usually including last-resort alternative options, leading to an urgent need to develop new drugs or combinations. In Argentina sequence type (ST) 258 harbouring bla KPC-2 emerged in 2010 and remained prevalent until the last few years, when the emergence of different STs such as ST25, ST11 and ST307 appeared likely to change the local epidemiology.Fil: García, J.. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; ArgentinaFil: Nastro, Marcela. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; ArgentinaFil: Cejas, Daniela. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquimica. Instituto de Investigaciones En Bacteriologia y Virologia Molecular; ArgentinaFil: Santana, G.. No especifíca;Fil: Mancino, M.B.. No especifíca;Fil: Hidalgo, M.. No especifíca;Fil: Maccallini, G.. No especifíca;Fil: Vay, C.. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; ArgentinaFil: Radice, Marcela Alejandra. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquimica. Instituto de Investigaciones En Bacteriologia y Virologia Molecular; ArgentinaFil: Dabos, L.. Université Paris Sud; FranciaFil: Famiglietti, Angela María Rosa. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; ArgentinaFil: Rodríguez, H.. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentin

An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Personalized genomic medicine depends on integrated analyses that combine genetic and phenotypic data from individual patients with reference knowledge of the functional and clinical significance of sequence variants. Sources of this reference knowledge include the ClinVar repository of human genetic variants, a community resource that accepts submissions from external groups, and UniProtKB/Swiss-Prot, an expert-curated resource of protein sequences and functional annotation. UniProtKB/Swiss-Prot provides knowledge on the functional impact and clinical significance of over 30 000 human protein-coding sequence variants, curated from peer-reviewed literature reports. Here we present a pilot study that lays the groundwork for the integration of curated knowledge of protein sequence variation from UniProtKB/Swiss-Prot with ClinVar. We show that existing interpretations of variant pathogenicity in UniProtKB/Swiss-Prot and ClinVar are highly concordant, with 88% of variants that are common to the two resources having interpretations of clinical significance that agree. Re-curation of a subset of UniProtKB/Swiss-Prot variants according to American College of Medical Genetics and Genomics (ACMG) guidelines using ClinGen tools further increases this level of agreement, mainly due to the reclassification of supposedly pathogenic variants as benign, based on newly available population frequency data. We have now incorporated ACMG guidelines and ClinGen tools into the UniProt Knowledgebase (UniProtKB) curation workflow and routinely submit variant data from UniProtKB/Swiss-Prot to ClinVar. These efforts will increase the usability and utilization of UniProtKB variant data and will facilitate the continuing (re-)evaluation of clinical variant interpretations as data sets and knowledge evolve

Poor correlation between large-scale environmental flow violations and freshwater biodiversity: implications for water resource management and the freshwater planetary boundary

The freshwater ecosystems around the world are degrading, such that maintaining environmental flow1 (EF) in river networks is critical to their preservation. The relationship between streamflow alterations (subsequent EF violations2) and the freshwater biodiversity response is well established at the scale of stream reaches or small basins (∼&lt;100 km2). However, it is unclear if this relationship is robust at larger scales, even though there are large-scale initiatives to legalize the EF requirement. Moreover, EFs have been used in assessing a planetary boundary3 for freshwater. Therefore, this study intends to conduct an exploratory evaluation of the relationship between EF violation and freshwater biodiversity at globally aggregated scales and for freshwater ecoregions. Four EF violation indices (severity, frequency, probability of shifting to a violated state, and probability of staying violated) and seven independent freshwater biodiversity indicators (calculated from observed biota data) were used for correlation analysis. No statistically significant negative relationship between EF violation and freshwater biodiversity was found at global or ecoregion scales. These findings imply the need for a holistic bio-geo-hydro-physical approach in determining the environmental flows. While our results thus suggest that streamflow and EF may not be the only determinant of freshwater biodiversity at large scales, they do not preclude the existence of relationships at smaller scales or with more holistic EF methods (e.g., including water temperature, water quality, intermittency, connectivity, etc.) or with other biodiversity data or metrics.</p

axl has a prognostic role in metastatic colorectal cancer mcrc and is a predictive biomarker of lack of efficacy of chemotherapy ct cetuximab in ras wild type wt patients pts

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Еволюція рослинного світу в природному і культигенному середовищі

У ході засідань Міжнародної наукової конференції “Еволюція рослинного світу в природному і культигенному середовищі”, присвяченої 200-річчю від Дня народження Чарльза Дарвіна, обговорено актуальні питання еволюційної теорії, ботаніки, фізіології рослин, інтродукції, генетики й селекції, екології, збереження і примноження глобального та локального біорізноманіття, лісових культур і фітомеліорації та інших біологічних наук.В ходе заседаний Международной научной конференции “Эволюция растительного мира в естественной и культигенной среде”, посвященной 200-летию со дня рождения Чарльза Дарвина, обсуждены актуальные вопросы эволюционной теории, ботаники, физиологии растений, интродукции, генетики и селекции, экологии, сохранения и приумножения глобального и локального биоразнообразия, лесных культур и фитомелиорации и других биологических наук.During meetings of the International scientific conference “Evolution of the natural and cultivated plants” to devoted a 200-year from the day of birth of Charles Darwin topical problems of the evolutional theory are discussed, including botany, physiology of plants, introduction of plants, genetics and breeding of plants, ecology, preventing the loss of global and loca biodiversity, arboriculture, forest-growing and other biological sciences