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Background: Focal cortical dysplasias (FCDs) are congenital structural abnormalities of the brain, and represent the most common cause of medication-resistant focal epilepsy in children and adults. Recent studies have shown that somatic mutations (i.e. mutations arising in the embryo) in mTOR pathway genes underlie some FCD cases. Specific therapies targeting the mTOR pathway are available. However, testing for somatic mTOR pathway mutations in FCD tissue is not performed on a clinical basis, and the contribution of such mutations to the pathogenesis of FCD remains unknown. Aim: To investigate the feasibility of screening for somatic mutations in resected FCD tissue and determine the proportion and spatial distribution of FCDs which are due to low-level somatic mTOR pathway mutations. Methods: We performed ultra-deep sequencing of 13 mTOR pathway genes using a custom HaloPlexHS target enrichment kit (Agilent Technologies) in 16 resected histologically-confirmed FCD specimens. Results: We identified causal variants in 62.5% (10/16) of patients at an alternate allele frequency of 0.75–33.7%. The spatial mutation frequency correlated with the FCD lesion’s size and severity. Conclusions: Screening FCD tissue using a custom panel results in a high yield, and should be considered clinically given the important potential implications regarding surgical resection, medical management and genetic counselling.
Background: Sotos syndrome is a genetic condition caused by NSD1 alterations, characterized by overgrowth, macrocephaly, dysmorphic features, and learning disability. Approximately half of children with Sotos syndrome develop seizures. We investigated the spectrum of seizure phenotypes in these patients. Methods: Patients were recruited from clinics and referral from support groups. Those withclinical or genetic diagnosis of Sotos syndrome and seizures were included. Phenotyping data was collected via structured clinical interview and medical chart review. Results: 25 patients with typical Sotos syndrome features were included. Of 14 tested patients, 64% (n=9) had NSD1 alterations. Most had developmental impairment (80%, n=20) and neuropsychiatric comorbidities (68%, n=17). Seizure onset was variable (2 months to 12 years). Febrile and absence seizures were the most frequent types (64%, n=16). Afebrile generalized tonicclonic (40%, n=10) and atonic (24%, n=6) seizures followed. Most patients (60%, n=15) had multiple seizure types. The majority (72%, n=18) was controlled on a single antiepileptic, or none; 4% (n=1) remained refractory to antiepileptics. Conclusions: The seizure phenotype in Sotos syndrome most commonly involves febrile convulsions or absence seizures. Afebrile tonic-clonic or atonic seizures may also occur. Seizures are typically well-controlled with antiepileptics. The rate of developmental impairment and neuropsychiatric comorbidities is high.
OBJECTIVES/SPECIFIC AIMS: The current pilot study will use a mixed methods approach to investigate the role of psychological mechanisms in the relationship between food insecurity and obesity. We will be the first to assess 4 key psychological constructs (delay discounting, grit, future time perspective, and subjective social status) in a sample of food secure and food insecure adults with and without obesity. The specific aims are: (1) Examine associations among psychological mechanisms, food security status, and body mass index (BMI); and (2) Collect qualitative data on psychological mechanisms linking food insecurity and BMI. METHODS/STUDY POPULATION: This is a cross-sectional, observational pilot study that will be conducted in the local Baton Rouge community. The target study sample is 56 food secure and food insecure women and men aged 18–49 years with a BMI of 20.0 kg/m2 or greater. Independent (grouping) variables are food security status and BMI. Primary endpoints are 4 psychological constructs measured via questionnaires: (1) delay discounting, (2) grit, (3) future time perspective, and (4) subjective social status. We will also assess a number of key covariates, including health literacy, sociodemographics, food assistance use, and dietary quality. Semistructured, in-depth interviews will be conducted in a subsample of 12 participants. RESULTS/ANTICIPATED RESULTS: For quantitative data, we will test for significant associations between food insecurity, obesity, and selected psychological mechanisms via bivariate correlations and linear and logistic regression models. Qualitative data will be analyzed to identify key themes and concepts that conceptually link the aforementioned psychological mechanisms to food insecurity and obesity. Analyzed qualitative data will be triangulated with quantitative findings. DISCUSSION/SIGNIFICANCE OF IMPACT: This pilot study will examine the role of psychological mechanisms in the relationship between food insecurity and obesity. Moreover, we are gathering data to identify potentially new intervention targets that will be used to develop intervention strategies aimed at reducing health disparities by effectively promoting weight management among low socioeconomic populations.
OBJECTIVES/SPECIFIC AIMS: Emotional processing theory and some observations suggest that activation of subjective and physiological distress during therapeutic exposure and habituation across exposure sessions are key to improvement. This study sought to determine whether initial subjective and physiological activation and between-session habituation would predict PTSD symptom reduction after a series of written trauma narrative exposure sessions. METHODS/STUDY POPULATION: In total, 29 urban-residing African-American participants with PTSD participated in four 30-minute writing sessions. Writing sessions 1 and 2 were 12 hours apart and session 3 and 4 were performed 1 week later, also 12 hours apart. PTSD symptoms were measured at baseline, after session 2, and 1 week after all 4 writing sessions with the Clinician Administered PTSD Scale. During each session, Subjective Units of Distress Scores (SUDS) were assessed 4 times and heart rate was measured continuously. RESULTS/ANTICIPATED RESULTS: Participants exhibited PTSD symptom improvement and habituation of subjective distress, but not physiological arousal, across writing sessions. First session baseline-corrected SUDS maximum and SUDS decrease from the initial to the final writing session were both positively associated with symptom improvement. DISCUSSION/SIGNIFICANCE OF IMPACT: Increased subjective, but not physiological, distress in the first exposure session and diminished subjective distress across sessions may be a helpful marker of emotional processing for clinicians and predictor of symptom improvement after written trauma narrative exposure.
We present results of modeling and experimental characterization of thermoelectric (TE) materials built on new fabrication principles, involving the coating of three-dimensionally structured quantum well super-lattice substrates with PbTe/PbSe. A new system for wafer-scale electrochemical deposition of such structures was specifically developed and will be described in this paper. Scanning electron microscopy (SEM) was used to measure film thickness and electron diffraction spectroscopy (EDS) was used to determine film material concentration. By adjusting deposition parameters, we were able to build stoichiometric PbSe, PbTe and stacked PbSe/PbTe super-lattice films on planar and pre-structured surfaces. The films were thermoelectrically modelled using COMSOL and then characterized using an infrared Seebeck effect measurement system which measured surface heating of the film while measuring the voltage associated with the temperature gradient. We report advances in the design and fabrication of TE materials which improve cost-effectiveness and TE efficiency.
In Epistulae ex Ponto 4.8, one of the last poems written from exile (dated to 15 or 16 c.e.), Ovid expresses his increasing hopes for Germanicus' assistance in effecting his recall to Rome. Though ostensibly addressed to his stepdaughter's father-in-law, P. Suillius Rufus, the poem contains a petition to Germanicus (27–88), as a poet to a poet, which promises future commemoration in Ovid's poetry if he is removed from Tomis:
clausaque si misero patria est, ut ponar in ullo,
qui minus Ausonia distet ab Vrbe loco,
unde tuas possim laudes celebrare recentes
magnaque quam minima facta referre mora. (85–8)
and if my country is closed against me in my misery, may I be placed in any place less distant from the Ausonian city, whence I might celebrate your praises while they are recent and relate your great deeds with the least delay.
We report on mid-infrared (600 – 4000 cm-1), refection-type optical-Hall effect measurements on epitaxial graphene grown on C-face silicon carbide and present Landau-level transition features detected at 1.5 K as a function of magnetic field up to 8 Tesla. The Landau-level transitions are detected in reflection configuration at oblique incidence for wavenumbers below, across and above the silicon carbide reststrahlen range. Small Landau-level transition features are enhanced across the silicon carbide reststrahlen range due to surface-guided wave coupling with the electronic Landau-level transitions in the graphene layer. We analyze the spectral and magnetic-field dependencies of the coupled resonances, and compare our findings with previously reported Landau-level transitions measured in transmission configuration [4,5,6]. Additional features resemble transitions previously assigned to bilayer inclusion , as well as graphite . We discuss a model description to account for the electromagnetic polarizability of the graphene layers, and which is sufficient for quantitative model calculation of the optical-Hall effect data.
The distribution and co-morbidity of common psychiatric disorders can be largely explained as manifestations of two broad psychopathological spectra of internalizing and externalizing disorders. Twin studies suggest that these spectra arise from genetic factors.
Structural equation twin modeling was applied to interview and questionnaire data on personality traits and lifetime psychiatric disorders on more than 5300 members of male–male (MM) and female–female (FF) twin pairs.
The best-fitting models for both the externalizing and internalizing spectra differed significantly in males and females. In males, the externalizing genetic common factor was best indexed by four disorders in the following order: antisocial personality disorder (ASPD), drug abuse/dependence (DAD), alcohol abuse dependence (AAD) and conduct disorder (CD). In females, the four disorders most closely related to the externalizing common factor were, in order: DAD, AAD, nicotine dependence (ND) and ASPD. Personality traits of novelty seeking (NS) and extraversion (E) better indexed the genetic externalizing spectrum in females than in males. In both males and females, major depression (MD) and generalized anxiety disorder (GAD) best indexed the genetic internalizing common factor. Panic disorder (PD) and agoraphobia (AgP) better reflected the internalizing genetic common factor in women, and neuroticism (N) in men. Genetic correlations between the two spectra were estimated at + 0.53 in males and + 0.52 in females.
The disorders that optimally index the genetic liability to externalizing and internalizing disorders in the general population differ meaningfully in men and women. In both sexes, these genetic spectra are better assessed by psychiatric disorders than by personality traits.