Derivation of lowland riparian wetland deposit architecture using geophysical image analysis and interface detection

For groundwater-surface water interactions to be understood in complex wetland settings, the architecture of the underlying deposits requires investigation at a spatial resolution sufficient to characterize significant hydraulic pathways. Discrete intrusive sampling using conventional approaches provides insufficient sample density and can be difficult to deploy on soft ground. Here a noninvasive geophysical imaging approach combining three-dimensional electrical resistivity tomography (ERT) and the novel application of gradient and isosurface-based edge detectors is considered as a means of illuminating wetland deposit architecture. The performance of three edge detectors were compared and evaluated against ground truth data, using a lowland riparian wetland demonstration site. Isosurface-based methods correlated well with intrusive data and were useful for defining the geometries of key geological interfaces (i.e., peat/gravels and gravels/Chalk). The use of gradient detectors approach was unsuccessful, indicating that the assumption that the steepest resistivity gradient coincides with the associated geological interface can be incorrect. These findings are relevant to the application of this approach in settings with a broadly layered geology with strata of contrasting resistivities. In addition, ERT revealed substantial structures in the gravels related to the depositional environment (i.e., braided fluvial system) and a complex distribution of low-permeability putty Chalk at the bedrock surface—with implications for preferential flow and variable exchange between river and groundwater systems. These results demonstrate that a combined approach using ERT and edge detectors can provide valuable information to support targeted monitoring and inform hydrological modeling of wetlands

Association between perinatal mortality and morbidity and customised and non-customised birthweight centiles: a comparative record-linkage study in Denmark, Finland, Norway, Wales and England

Objectives: To compare the risk of adverse perinatal outcomes according to infants who are born small for gestational age (SGA; 90th centile), as defined by birthweight centiles that are non-customised (ie, standardised by sex and gestational age only) and customised (by sex, gestational age, maternal weight, height, parity, and ethnic group). Design: Comparative, population based, record linkage study with meta-analysis of results. Setting: Denmark, Finland, Norway, Wales, and England (city of Bradford), 1986-2019. Participants: 2 129 782 infants born at term in birth registries. Main outcome measures: Stillbirth, neonatal death, infant death, admission to neonatal intensive care unit, and low Apgar score (<7) at 5 minutes. Results: Relative to those infants born average for gestational age (AGA), both SGA and LGA births were at increased risk of all five outcomes, but observed relative risks were similar irrespective of whether non-customised or customised charts were used. For example, for SGA versus AGA births, when non-customised and customised charts were used, relative risks pooled over countries were 3.60 (95% confidence interval 3.29 to 3.93) versus 3.58 (3.02 to 4.24) for stillbirth, 2.83 (2.18 to 3.67) versus 3.32 (2.05 to 5.36) for neonatal death, 2.82 (2.07 to 3.83) versus 3.17 (2.20 to 4.56) for infant death, 1.66 (1.49 to 1.86) versus 1.54 (1.30 to 1.81) for low Apgar score at 5 minutes, and (based on Bradford data only) 1.97 (1.74 to 2.22) versus 1.94 (1.70 to 2.21) for admission to the neonatal intensive care unit. The estimated sensitivity of combined SGA or LGA births to identify the three mortality outcomes ranged from 31% to 34% for non-customised charts and from 34% to 38% for customised charts, with a specificity of 82% and 80% with non-customised and customised charts, respectively. Conclusions: These results suggest an increased risk of adverse perinatal outcomes of a similar magnitude among SGA or LGA term infants when customised and non-customised centiles are used. Use of customised charts for SGA/LGA births—over and above use of non-customised charts for SGA/LGA births—is unlikely to provide benefits in terms of identifying term births at risk of these outcomes

Medicines Reconciliation in the Emergency Department:Important Prescribing Discrepancies between the Shared Medication Record and Patients’ Actual Use of Medication

Medication reconciliation is crucial to prevent medication errors. In Denmark, primary and secondary care physicians can prescribe medication in the same electronic prescribing system known as the Shared Medication Record (SMR). However, the SMR is not always updated by physicians, which can lead to discrepancies between the SMR and patients’ actual use of medication. These discrepancies may compromise patient safety upon admission to the emergency department (ED). Here, we investigated (a) the occurrence of discrepancies, (b) factors associated with discrepancies, and (c) the percentage of patients accessible to a clinical pharmacist during pharmacy working hours. The study included all patients age ≥ 18 years who were admitted to the Hvidovre Hospital ED on three consecutive days in June 2020. The clinical pharmacists performed medicines reconciliation to identify prescribing discrepancies. In total, 100 patients (52% male; median age 66.5 years) were included. The patients had a median of 10 [IQR 7–13] medications listed in the SMR and a median of two [IQR 1–3.25] discrepancies. Factors associated with increased rate of prescribing discrepancies were age < 65 years, time since last update of the SMR ≥ 115 days, and patients’ self-dispensing their medications. Eighty-four percent of patients were available for medicines reconciliations during the normal working hours of the clinical pharmacist. In conclusion, we found that discrepancies between the SMR and patients’ actual medication use upon admission to the ED are frequent, and we identified several risk factors associated with the increased rate of discrepancies

Anomalías congénitas en ninos con parálisis cerebral adquirida postnatal: un estudio combinando de registros internacionales

Comprehensive CA-CP Study Group: Ingeborg Barisic, Vlatka Bosnjak Mejaski, Emmanuelle Amar, Elodie Sellier, Sandra Julsen Hollung, Kari Klungsøyr, Paula Braz, Daniel Virella, Catherine Gibson, Karin Källén, Susan M Reid, Gareth Baynam, Dylan Gration, Michèle Hansen, Linda WatsonComprehensive CA-CP Study Group: Paula Braz, Daniel Virella. INSA, Portugal.Aim: To describe the major congenital anomalies present in children with postneonatally acquired cerebral palsy (CP), and to compare clinical outcomes and cause of postneonatally acquired CP between children with and without anomalies. Method: Data were linked between total population CP and congenital anomaly registers in five European and three Australian regions for children born 1991 to 2009 (n=468 children with postneonatally acquired CP; 255 males, 213 females). Data were pooled and children classified into mutually exclusive categories based on type of congenital anomaly. The proportion of children with congenital anomalies was calculated. Clinical outcomes and cause of postneonatally acquired CP were compared between children with and without anomalies. Results: Major congenital anomalies were reported in 25.6% (95% confidence interval [CI] 21.7-29.9) of children with postneonatally acquired CP. Cardiac anomalies, often severe, were common and present in 14.5% of children with postneonatally acquired CP. Clinical outcomes were not more severe in children with congenital anomalies than those without anomalies. Cause of postneonatally acquired CP differed with the presence of congenital anomalies, with cerebrovascular accidents predominating in the anomaly group. Congenital anomalies were likely associated with cause of postneonatally acquired CP in 77% of children with anomalies. Interpretation: In this large, international study of children with postneonatally acquired CP, congenital anomalies (particularly cardiac anomalies) were common. Future research should determine specific causal pathways to postneonatally acquired CP that include congenital anomalies to identify opportunities for prevention. What this paper adds: One-quarter of children with postneonatally acquired cerebral palsy (CP) have a major congenital anomaly. Cardiac anomalies, often severe, are the most common anomalies. Causes of postneonatally acquired CP differ between children with and without congenital anomalies.Objetivo: Describir las principales anomalías congenitas presentes en niños con parálisis cerebral (PC) adquirida posnatalmente y comparar los resultados clínicos y la causa de PC entre niños con y sin anomalías. Método: Se relacionaron los registros de datos de la población con PC y los registros de anomalías congenitas de cinco regiones de Europa y tres de Australia de niños nacidos de 1991 a 2009 (n = 468 niños con PC adquirida posnatalmente; 255 varones, 213 mujeres). Se agruparon los datos y clasificaron en categor ıas mutuamente excluyentes segun el tipo de anomalías congenita. Se calcul o la pro-porcion de ni nos con anomalías congenitas. Se compararon los resultados clínicos y la causa de la PC adquirida posnatalmente entre niños con y sin anomalías. Resultados: Se registraron anomalías congenitas importantes en el 25,6% (intervalo de confianza [IC] del 95%: 21,7-29,9) de los niños con PC adquirida despues del nacimiento. Hubo una alta frecuencia de anomalías cardíacas, que estaban presentes en el 14,5% de los niños con PC adquirida posnatalmente. La evolución clínica no fue diferentes entre niños con o sin anomalías congenitas. La causa de PC adquirida posnatalmente vario con la presencia de anomalías congenitas, predominando los accidentes cerebrovasculares en el grupo de anomalías congenitas. La causa de PC adquirida posnatalmente esta probablemente asociada con anomalias congenitas en el 77% de los niños con anomalías. Interpretacion: En este estudio internacional de niños con PC adquirida posnatalmente, las anomalías congenitas fueron frecuentes, particularmente las anomalías cardíacas. Las investigaciones futuras deben determinar las vías causales específicas de la PC adquirida posnatalmente que incluyen anomalías congenitas para identificar oportunidades de prevención.info:eu-repo/semantics/publishedVersio

Congenital anomalies in children with pre‐ or perinatally acquired cerebral palsy: an international data linkage study

Members of the Comprehensive CA-CP study group: Paula Braz and Daniel Virella, Portugal. Departamento de Epidemiologia do INSAAim: To describe the frequency and types of major congenital anomalies present in children with pre- or perinatally acquired cerebral palsy (CP), and compare clinical outcomes for children with and without anomalies. Method: This multi-centre total population collaborative study between Surveillance of Cerebral Palsy in Europe, Australian Cerebral Palsy Register, and European Surveillance of Congenital Anomalies (EUROCAT) involved six European and three Australian regions. Data were linked between each region's CP and congenital anomaly register for children born between 1991 and 2009, and then pooled. Children were classified into mutually exclusive categories based on type of anomaly. Proportions of children with congenital anomalies were calculated, and clinical outcomes compared between children with and without anomalies. Results: Of 8201 children with CP, 22.8% (95% confidence interval [CI] 21.9, 23.8) had a major congenital anomaly. Isolated cerebral anomalies were most common (45.2%), with a further 8.6% having both cerebral and non-cerebral anomalies. Cardiac anomalies only were described in 10.5% of children and anomalies associated with syndromes were also reported: genetic (8.0%), chromosomal (5.7%), and teratogenic (3.0%). Clinical outcomes were more severe for children with CP and congenital anomalies, particularly cerebral anomalies. Interpretation: This large, international study reports major congenital anomalies in nearly one-quarter of children with pre- or perinatally acquired CP. Future research must focus on aetiological pathways to CP that include specific patterns of congenital anomalies. What this paper adds: Congenital anomalies were reported in 23% of children with pre- or perinatally acquired cerebral palsy. A higher proportion of children born at or near term had anomalies. The most common type of anomalies were isolated cerebral anomalies. Clinical outcomes were more severe for children with congenital anomalies (particularly cerebral).Cerebral Palsy Alliance Research Foundation. Grant Numbers: PG1215, PG2816, Salary support (SG, SM, HSS, NB)info:eu-repo/semantics/publishedVersio

A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy

[Background] UBA5 is the activating enzyme of UFM1 in the ufmylation post-translational modification system. Different neurological phenotypes have been associated with UBA5 pathogenic variants including epilepsy, intellectual disability, movement disorders and ataxia.[Methods and results] We describe a large multigenerational consanguineous family presenting with a severe congenital neuropathy causing early death in infancy. Whole exome sequencing and linkage analysis identified a novel homozygous UBA5 NM_024818.3 c.31C>T (p.Arg11Trp) mutation. Protein expression assays in mouse tissue showed similar levels of UBA5 in peripheral nerves to the central nervous system. CRISPR-Cas9 edited HEK (human embrionic kidney) cells homozygous for the UBA5 p.Arg11Trp mutation showed reduced levels of UBA5 protein compared with the wild-type. The mutant p.Arg11Trp UBA5 protein shows reduced ability to activate UFM1.[Conclusion] This report expands the phenotypical spectrum of UBA5 mutations to include fatal peripheral neuropathy.MC-S was supported by ISCIII (JR15/00042) and Junta de Andalucia-Consejeria de Salud (B-0005-2017). This work was supported by the NHMRC, grants to NGL and GR (APP1002147, APP1035955, APP1080587). MK is supported by a Grant-in-Aid for Scientific Research on Innovative Areas (19H0506), a Grant-in-Aid for Scientific Research (B) (18H02611), the Japan Society for the Promotion of Science (an A3 foresight program) and the Takeda Science Foundation (to MK). RI is supported by a Grant-in-Aid for Young Scientists (B) (18K15061)