A meta-analysis of water quality and aquatic macrophyte responses in 18 lakes treated with lanthanum modified bentonite (PHOSLOCK®)

Lanthanum (La) modified bentonite is being increasingly used as a geo-engineering tool for the control of phosphorus (P) release from lake bed sediments to overlying waters. However, little is known about its effectiveness in controlling P across a wide range of lake conditions or of its potential to promote rapid ecological recovery. We combined data from 18 treated lakes to examine the lake population responses in the 24 months following La-bentonite application (range of La-bentonite loads: 1.4 to 6.7 tonnes ha-1) in concentrations of surface water total phosphorus (TP; data available from 15 lakes), soluble reactive phosphorus (SRP; 14 lakes), and chlorophyll a (15 lakes), and in Secchi disk depths (15 lakes), aquatic macrophyte species numbers (6 lakes) and aquatic macrophyte maximum colonisation depths (4 lakes) across the treated lakes. Data availability varied across the lakes and variables, and in general monitoring was more frequent closer to the application dates. Median annual TP concentrations decreased significantly across the lakes, following the La-bentonite applications (from 0.08 mg L-1 in the 24 months pre-application to 0.03 mg L-1 in the 24 months post-application), particularly in autumn (0.08 mg L-1 to 0.03 mg L-1) and winter (0.08 mg L-1 to 0.02 mg L-1). Significant decreases in SRP concentrations over annual (0.019 mg L-1 to 0.005 mg L-1), summer (0.018 mg L-1 to 0.004 mg L-1), autumn (0.019 mg L-1 to 0.005 mg L-1) and winter (0.033 mg L-1 to 0.005 mg L-1) periods were also reported. P concentrations following La-bentonite application varied across the lakes and were correlated positively with dissolved organic carbon concentrations. Relatively weak, but significant responses were reported for summer chlorophyll a concentrations and Secchi disk depths following La-bentonite applications, the 75th percentile values decreasing from 119 μg L-1 to 74 μg L-1 and increasing from 398 cm to 506 cm, respectively. Aquatic macrophyte species numbers and maximum colonisation depths increased following La-bentonite application from a median of 5.5 species to 7.0 species and a median of 1.8 m to 2.5 m, respectively. The aquatic macrophyte responses varied significantly between lakes. La-bentonite application resulted in a general improvement in water quality leading to an improvement in the aquatic macrophyte community within 24 months. However, because, the responses were highly site-specific, we stress the need for comprehensive pre- and post-application assessments of processes driving ecological structure and function in candidate lakes to inform future use of this and similar products

Genetic Sharing with Cardiovascular Disease Risk Factors and Diabetes Reveals Novel Bone Mineral Density Loci.

Bone Mineral Density (BMD) is a highly heritable trait, but genome-wide association studies have identified few genetic risk factors. Epidemiological studies suggest associations between BMD and several traits and diseases, but the nature of the suggestive comorbidity is still unknown. We used a novel genetic pleiotropy-informed conditional False Discovery Rate (FDR) method to identify single nucleotide polymorphisms (SNPs) associated with BMD by leveraging cardiovascular disease (CVD) associated disorders and metabolic traits. By conditioning on SNPs associated with the CVD-related phenotypes, type 1 diabetes, type 2 diabetes, systolic blood pressure, diastolic blood pressure, high density lipoprotein, low density lipoprotein, triglycerides and waist hip ratio, we identified 65 novel independent BMD loci (26 with femoral neck BMD and 47 with lumbar spine BMD) at conditional FDR < 0.01. Many of the loci were confirmed in genetic expression studies. Genes validated at the mRNA levels were characteristic for the osteoblast/osteocyte lineage, Wnt signaling pathway and bone metabolism. The results provide new insight into genetic mechanisms of variability in BMD, and a better understanding of the genetic underpinnings of clinical comorbidity

The impact of generic substitution on price competition in Finland

Generic substitution, Pharmaceutical industry, Price competition, D43, L65,

Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy.

Objective The study is aimed at widening the clinical and genetic spectrum and at assessing genotype-phenotype associations in QARS encephalopathy. Methods Through diagnostic gene panel screening in an epilepsy cohort, and recruiting through GeneMatcher and our international network, we collected 10 patients with biallelic QARS variants. In addition, we collected data on 12 patients described in the literature to further delineate the associated phenotype in a total cohort of 22 patients. Computer modeling was used to assess changes on protein folding. Results Biallelic pathogenic variants in QARS cause a triad of progressive microcephaly, moderate to severe developmental delay, and early-onset epilepsy. Microcephaly was present at birth in 65%, and in all patients at follow-up. Moderate (14%) or severe (73%) developmental delay was characteristic, with no achievement of sitting (85%), walking (86%), or talking (90%). Additional features included irritability (91%), hypertonia/spasticity (75%), hypotonia (83%), stereotypic movements (75%), and short stature (56%). Seventy-nine percent had pharmacoresistant epilepsy with mainly neonatal onset. Characteristic cranial MRI findings include early-onset progressive atrophy of cerebral cortex (89%) and cerebellum (61%), enlargement of ventricles (95%), and age-dependent delayed myelination (88%). A small subset of patients displayed a less severe phenotype. Conclusions These data revealed first genotype-phenotype associations and may serve for improved interpretation of new QARS variants and well-founded genetic counseling