The Ability of Soil Pore Network Metrics to Predict Redox Dynamics Is Scale Dependent

Variations in microbial community structure and metabolic efficiency are governed in part by oxygen availability, which is a function of water content, diffusion distance, and oxygen demand; for this reason, the volume, connectivity, and geometry of soil pores may exert primary controls on spatial metabolic diversity in soil. Here, we combine quantitative pore network metrics derived from X-ray computed tomography (XCT) with measurements of electromotive potentials to assess how the metabolic status of soil depends on variations of the overall pore network architecture. Contrasting pore network architectures were generated using a Mollisol—A horizon, and compared to intact control samples from the same soil. Mesocosms from each structural treatment were instrumented with Pt-electrodes to record available energy dynamics during a regimen of varying moisture conditions. We found that volume-based XCT-metrics were more frequently correlated with metrics describing changes in available energy than medial-axis XCT-metrics. An abundance of significant correlations between pore network metrics and available energy parameters was not only a function of pore architecture, but also of the dimensions of the sub-sample chosen for XCT analysis. Pore network metrics had the greatest power to statistically explain changes in available energy in the smallest volumes analyzed. Our work underscores the importance of scale in observations of natural systems

Kabuki syndrome: international consensus diagnostic criteria

Background Kabuki syndrome (KS) is a clinically recognisable syndrome in which 70% of patients have a pathogenic variant in KMT2D or KDM6A. Understanding the function of these genes opens the door to targeted therapies. The purpose of this report is to propose diagnostic criteria for KS, particularly when molecular genetic testing is equivocal. Methods A n international group of experts created consensus diagnostic criteria for KS. Systematic PubMed searches returned 70 peer-reviewed publications in which at least one individual with molecularly confirmed KS was reported. The clinical features of individuals with known mutations were reviewed. Results T he authors propose that a definitive diagnosis can be made in an individual of any age with a history of infantile hypotonia, developmental delay and/ or intellectual disability, and one or both of the following major criteria: (1) a pathogenic or likely pathogenic variant in KMT2D or KDM6A; and (2) typical dysmorphic features (defined below) at some point of life. Typical dysmorphic features include long palpebral fissures with eversion of the lateral third of the lower eyelid and two or more of the following: (1) arched and broad eyebrows with the lateral third displaying notching or sparseness; (2) short columella with depressed nasal tip; (3) large, prominent or cupped ears; and (4) persistent fingertip pads. Further criteria for a probable and possible diagnosis, including a table of suggestive clinical features, are presented. Conclusion A s targeted therapies for KS are being developed, it is important to be able to make the correct diagnosis, either with or without molecular genetic confirmation

Kabuki syndrome: international consensus diagnostic criteria.

To access publisher's full text version of this article click on the hyperlink belowBACKGROUND: Kabuki syndrome (KS) is a clinically recognisable syndrome in which 70% of patients have a pathogenic variant in KMT2D or KDM6A. Understanding the function of these genes opens the door to targeted therapies. The purpose of this report is to propose diagnostic criteria for KS, particularly when molecular genetic testing is equivocal. METHODS: An international group of experts created consensus diagnostic criteria for KS. Systematic PubMed searches returned 70 peer-reviewed publications in which at least one individual with molecularly confirmed KS was reported. The clinical features of individuals with known mutations were reviewed. RESULTS: The authors propose that a definitive diagnosis can be made in an individual of any age with a history of infantile hypotonia, developmental delay and/or intellectual disability, and one or both of the following major criteria: (1) a pathogenic or likely pathogenic variant in KMT2D or KDM6A; and (2) typical dysmorphic features (defined below) at some point of life. Typical dysmorphic features include long palpebral fissures with eversion of the lateral third of the lower eyelid and two or more of the following: (1) arched and broad eyebrows with the lateral third displaying notching or sparseness; (2) short columella with depressed nasal tip; (3) large, prominent or cupped ears; and (4) persistent fingertip pads. Further criteria for a probable and possible diagnosis, including a table of suggestive clinical features, are presented. CONCLUSION: As targeted therapies for KS are being developed, it is important to be able to make the correct diagnosis, either with or without molecular genetic confirmation.Telethon - Italy Jerome Lejeune Foundation Daunia Plas