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Studying phenotypic and genetic characteristics of age at onset (AAO) and polarity at onset (PAO) in bipolar disorder can provide new insights into disease pathology and facilitate the development of screening tools.
To examine the genetic architecture of AAO and PAO and their association with bipolar disorder disease characteristics.
Genome-wide association studies (GWASs) and polygenic score (PGS) analyses of AAO (n = 12 977) and PAO (n = 6773) were conducted in patients with bipolar disorder from 34 cohorts and a replication sample (n = 2237). The association of onset with disease characteristics was investigated in two of these cohorts.
Earlier AAO was associated with a higher probability of psychotic symptoms, suicidality, lower educational attainment, not living together and fewer episodes. Depressive onset correlated with suicidality and manic onset correlated with delusions and manic episodes. Systematic differences in AAO between cohorts and continents of origin were observed. This was also reflected in single-nucleotide variant-based heritability estimates, with higher heritabilities for stricter onset definitions. Increased PGS for autism spectrum disorder (β = −0.34 years, s.e. = 0.08), major depression (β = −0.34 years, s.e. = 0.08), schizophrenia (β = −0.39 years, s.e. = 0.08), and educational attainment (β = −0.31 years, s.e. = 0.08) were associated with an earlier AAO. The AAO GWAS identified one significant locus, but this finding did not replicate. Neither GWAS nor PGS analyses yielded significant associations with PAO.
AAO and PAO are associated with indicators of bipolar disorder severity. Individuals with an earlier onset show an increased polygenic liability for a broad spectrum of psychiatric traits. Systematic differences in AAO across cohorts, continents and phenotype definitions introduce significant heterogeneity, affecting analyses.
Relaxor ferroelectrics have drawn attention for possible applications in solid-state cooling and thermal energy harvesting, owing to their electrothermal energy conversion properties. Here, we have synthesized and characterized the structure–property correlations of a new Sn- and Nb-doped (Ba,Ca)TiO3 relaxor ferroelectric with large pyroelectric and electrocaloric effects over a broad temperature range. We observed two peaks for the temperature-dependent pyroelectric coefficient: (i) -(∂P/∂T) ∼ 563 μC/(m2 K) at T∼ 270 K and (ii) -(∂P/∂T) ∼ 1021 μC/(m2 K) at T∼ 320 K. In addition, a broad peak for electrocaloric temperature change is observed near 320 K with a relative cooling power of ∼17 J/kg. These properties could be correlated to structural changes observed using X-ray diffraction at two different temperature ranges in the material. Analysis of high-energy X-ray scattering and specific heat capacity data revealed a transition from the cubic to tetragonal phase near Tm∼ 320 K, whereas an additional increase in the tetragonality (c/a) of the polar phase is observed below Ts∼ 270 K.
The cognitive profile of early onset Parkinson’s disease (EOPD) has not been clearly defined. Mutations in the parkin gene are the most common genetic risk factor for EOPD and may offer information about the neuropsychological pattern of performance in both symptomatic and asymptomatic mutation carriers. EOPD probands and their first-degree relatives who did not have Parkinson’s disease (PD) were genotyped for mutations in the parkin gene and administered a comprehensive neuropsychological battery. Performance was compared between EOPD probands with (N = 43) and without (N = 52) parkin mutations. The same neuropsychological battery was administered to 217 first-degree relatives to assess neuropsychological function in individuals who carry parkin mutations but do not have PD. No significant differences in neuropsychological test performance were found between parkin carrier and noncarrier probands. Performance also did not differ between EOPD noncarriers and carrier subgroups (i.e., heterozygotes, compound heterozygotes/homozygotes). Similarly, no differences were found among unaffected family members across genotypes. Mean neuropsychological test performance was within normal range in all probands and relatives. Carriers of parkin mutations, whether or not they have PD, do not perform differently on neuropsychological measures as compared to noncarriers. The cognitive functioning of parkin carriers over time warrants further study. (JINS, 2011, 17, 1–10)
The objective was to determine the effects of low-dose, high-concentration, dual localized botulinum toxin A (BTX-A) injections on upper limb movement quality and function. Study design was an evaluator-blinded, randomized, controlled trial. Forty-two children (31 males, 11 females; range 2–8y, mean 4y [SD 1.6]) with hemiplegic cerebral palsy (Gross Motor Function Classification System level I) participated. All received occupational therapy. The treatment group (n=21) received one injection series (mean muscles injected 6 [SD 1.05]; total dose 82–220 units, mean 139 [SD 37.48]; dilution 100 units/0.5ml). Primary outcome of Quality of Upper Extremity Skills Test (QUEST) at 6 months was not significant (p=0.318). Secondary outcomes were average treatment effects at 1, 3, and 6 months, which favoured the treatment group: QUEST (p<0.001); Canadian Occupational Performance Measure (performance, p=0.002; satisfaction p=0.007); parent Goal Attainment Scaling (GAS; p=0.001), therapist GAS (p<0.001); Pediatric Evaluation of Disability Inventory (PEDI) functional skills (p=0.030); Ashworth (p<0.001). PEDI caregiver assistance was not significant (p=0.140). Therapy alone is effective, but at 1 and 3 months movement quality is better where BTX-A is also used. Moreover, function is better at 1, 3, and 6 months, suggesting BTX-A enhances therapy outcomes beyond the pharmacological effect. One- and 3-month Ashworth and QUEST scores suggest precise needle placement accuracy.
Safety assessments of nuclear waste repositories often require estimation of actinide solubilities as they vary with groundwater composition. Although a considerable amount of research has been done on the solubility and speciation of actinides,1,2 relatively little has been done to unify these data into a model applicable to concentrated brines. Numerous authors report data on the aqueous chemical properties of Np(V) in NaClO4, Na2CO3, and NaCl media, but a consistent thermodynamic model for predicting these properties is not available. To meet this need, a model was developed to describe the solubility of Np(V) in Na-Cl-ClO4-CO3 aqueous systems, based on the Pitzer activity coefficient formalism for concentrated electrolytes. Hydrolysis and/or carbonate complexation are the dominant aqueous reactions with the neptunyl ion in these systems. Literature data for neptunyl ion extraction and solubility are used to parameterize an integrated model for Np(V) solubility in the Np(V)-Na-CO3-HCO3-Cl-ClO4-H-OH-H2O system. The resulting model is tested against additional solubility and extraction data, and compared with Np(V) solubility experiments in complex synthetic brines.
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