Infiltration rate as affected by an alfalfa and no-till cotton cropping system

Previous studies measured a long-term increase in infiltration rate in a sandy loam soil with time when alfalfa (Medicago saliva L., cv. WL514) was grown. Cotton (Gossypium hirsutum L.) was direct-planted into alfalfa to determine if the high infiltration rates measured under alfalfa culture could be maintained in cotton under either a till or no-till system. Treatments were no-till or tillage to the 0.15 - m depth just before the cotton was planted. Prior compaction levels created by harvest traffic applied to the alfalfa made the soil loose or compacted. Cotton was planted flat and irrigated as a basin. Infiltration rates measured 2 h after water was applied and averaged for the season were 101 (no-till, loose), 56 (till, loose), 82 (no-till, compacted), and 42 mm/h (till, compacted). All the infiltration rates were much higher than normally measured for cotton in these soils. Water flow in the 5-yr-old alfalfa was determined to be mainly through the soil macropore system. High infiltration rates measured in the no-till cotton were also probably the result of flow through the macropores

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Purpose: Pathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically diagnosed Coffin–Siris patients (ARID1B-CSS) and it is unclear whether these data are representative for patients identified through sequencing of unbiased ID cohorts (ARID1B-ID). We therefore sought to determine genotypic and phenotypic differences between ARID1B-ID and ARID1B-CSS. In parallel, we investigated the effect of different methods of phenotype reporting. Methods: Clinicians entered clinical data in an extensive web-based survey. Results: 79 ARID1B-CSS and 64 ARID1B-ID patients were included. CSS-associated dysmorphic features, such as thick eyebrows, long eyelashes, thick alae nasi, long and/or broad philtrum, small nails and small or absent fifth distal phalanx and hypertrichosis, were observed significantly more often (p < 0.001) in ARID1B-CSS patients. No other significant differences were identified. Conclusion: There are only minor differences between ARID1B-ID and ARID1B-CSS patients. ARID1B-related disorders seem to consist of a spectrum, and patients should be managed similarly. We demonstrated that data collection methods without an explicit option to report the absence of a feature (such as most Human Phenotype Ontology-based methods) tended to underestimate gene-related features

The Cholecystectomy As A Day Case (CAAD) Score: A Validated Score of Preoperative Predictors of Successful Day-Case Cholecystectomy Using the CholeS Data Set

Background Day-case surgery is associated with significant patient and cost benefits. However, only 43% of cholecystectomy patients are discharged home the same day. One hypothesis is day-case cholecystectomy rates, defined as patients discharged the same day as their operation, may be improved by better assessment of patients using standard preoperative variables. Methods Data were extracted from a prospectively collected data set of cholecystectomy patients from 166 UK and Irish hospitals (CholeS). Cholecystectomies performed as elective procedures were divided into main (75%) and validation (25%) data sets. Preoperative predictors were identified, and a risk score of failed day case was devised using multivariate logistic regression. Receiver operating curve analysis was used to validate the score in the validation data set. Results Of the 7426 elective cholecystectomies performed, 49% of these were discharged home the same day. Same-day discharge following cholecystectomy was less likely with older patients (OR 0.18, 95% CI 0.15–0.23), higher ASA scores (OR 0.19, 95% CI 0.15–0.23), complicated cholelithiasis (OR 0.38, 95% CI 0.31 to 0.48), male gender (OR 0.66, 95% CI 0.58–0.74), previous acute gallstone-related admissions (OR 0.54, 95% CI 0.48–0.60) and preoperative endoscopic intervention (OR 0.40, 95% CI 0.34–0.47). The CAAD score was developed using these variables. When applied to the validation subgroup, a CAAD score of ≤5 was associated with 80.8% successful day-case cholecystectomy compared with 19.2% associated with a CAAD score >5 (p < 0.001). Conclusions The CAAD score which utilises data readily available from clinic letters and electronic sources can predict same-day discharges following cholecystectomy

Infiltration rate as affected by an alfalfa and no-till cotton cropping system

Previous studies measured a long-term increase in infiltration rate in a sandy loam soil with time when alfalfa (Medicago saliva L., cv. WL514) was grown. Cotton (Gossypium hirsutum L.) was direct-planted into alfalfa to determine if the high infiltration rates measured under alfalfa culture could be maintained in cotton under either a till or no-till system. Treatments were no-till or tillage to the 0.15 - m depth just before the cotton was planted. Prior compaction levels created by harvest traffic applied to the alfalfa made the soil loose or compacted. Cotton was planted flat and irrigated as a basin. Infiltration rates measured 2 h after water was applied and averaged for the season were 101 (no-till, loose), 56 (till, loose), 82 (no-till, compacted), and 42 mm/h (till, compacted). All the infiltration rates were much higher than normally measured for cotton in these soils. Water flow in the 5-yr-old alfalfa was determined to be mainly through the soil macropore system. High infiltration rates measured in the no-till cotton were also probably the result of flow through the macropores

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Missense and truncating variants in the X-chromosome-linked CLCN4 gene, resulting in reduced or complete loss-of-function (LOF) of the encoded chloride/proton exchanger ClC-4, were recently demonstrated to cause a neurocognitive phenotype in both males and females. Through international clinical matchmaking and interrogation of public variant databases we assembled a database of 90 rare CLCN4 missense variants in 90 families: 41 unique and 18 recurrent variants in 49 families. For 43 families, including 22 males and 33 females, we collated detailed clinical and segregation data. To confirm causality of variants and to obtain insight into disease mechanisms, we investigated the effect on electrophysiological properties of 59 of the variants in Xenopus oocytes using extended voltage and pH ranges. Detailed analyses revealed new pathophysiological mechanisms: 25% (15/59) of variants demonstrated LOF, characterized by a "shift" of the voltage-dependent activation to more positive voltages, and nine variants resulted in a toxic gain-of-function, associated with a disrupted gate allowing inward transport at negative voltages. Functional results were not always in line with in silico pathogenicity scores, highlighting the complexity of pathogenicity assessment for accurate genetic counselling. The complex neurocognitive and psychiatric manifestations of this condition, and hitherto under-recognized impacts on growth, gastrointestinal function, and motor control are discussed. Including published cases, we summarize features in 122 individuals from 67 families with CLCN4-related neurodevelopmental condition and suggest future research directions with the aim of improving the integrated care for individuals with this diagnosis