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Background: Schizencephaly is a congenital brain malformation involving a cleft in the cerebral hemisphere lined with abnormal gray matter with an estimated incidence of 1.5 per 100,000 live births. Methods: This study aims to characterize the radiological, etiological, and clinical features of schizencephaly, identifying factors predictive of patient outcomes. A retrospective cohort of 94 individuals, both adult and pediatric, was analyzed across four tertiary care centers. A neuroradiologist systematically reviewed imaging, while charts were reviewed for clinical features. Results: Several perinatal risk factors were identified, including young maternal age and prenatal infections. However, genetic testing yielded only one pathogenic COL4A1 mutation. MRI findings showed frequent additional malformations, including those in the pituitary, corpus callosum, and fornix. Clinical characteristics included neurodevelopmental delay (71.6%), seizures (50.0%), and motor impairments (53.3%). Outcomes were heterogeneous, with bilateral and open-lip clefts associated with more severe developmental delays, while seizure rates were comparable across subtypes. Conclusions: The complexity of schizencephaly is highlighted in the largest cohort reported with high rates of seizures, neurodevelopmental delays, and motor impairments, but outcomes varied widely based on imaging features, underscoring the importance of individualized management. The low yield of genetic findings emphasizes prenatal environmental risk factors as etiological contributors.
Multicenter clinical trials are essential for evaluating interventions but often face significant challenges in study design, site coordination, participant recruitment, and regulatory compliance. To address these issues, the National Institutes of Health’s National Center for Advancing Translational Sciences established the Trial Innovation Network (TIN). The TIN offers a scientific consultation process, providing access to clinical trial and disease experts who provide input and recommendations throughout the trial’s duration, at no cost to investigators. This approach aims to improve trial design, accelerate implementation, foster interdisciplinary teamwork, and spur innovations that enhance multicenter trial quality and efficiency. The TIN leverages resources of the Clinical and Translational Science Awards (CTSA) program, complementing local capabilities at the investigator’s institution. The Initial Consultation process focuses on the study’s scientific premise, design, site development, recruitment and retention strategies, funding feasibility, and other support areas. As of 6/1/2024, the TIN has provided 431 Initial Consultations to increase efficiency and accelerate trial implementation by delivering customized support and tailored recommendations. Across a range of clinical trials, the TIN has developed standardized, streamlined, and adaptable processes. We describe these processes, provide operational metrics, and include a set of lessons learned for consideration by other trial support and innovation networks.
Toxoplasmosis, caused by the obligate intracellular parasite Toxoplasma gondii, is one of the most prevalent zoonotic parasitic infections worldwide. When acquired during pregnancy, T. gondii can be transmitted to the fetus, with clinical outcomes influenced by gestational age at time of infection and the parasite’s genotype. Prenatal screening enables the detection of maternal seroconversion and offers a critical window for intervention. In Uruguay, despite mandatory serological screening during pregnancy, national data on T. gondii seroprevalence and maternal seroconversion have not been updated in two decades. In addition, the genetic diversity of local strains remains poorly characterized. In this study, we analysed publicly available serological data from pregnant individuals attending Uruguay’s largest public maternity hospital between 2019 and 2023. We found that seroprevalence has modestly declined from 50% (reported in 1998) to 45.5%, with a congenital transmission rate of 0.58%. Clinical analysis of affected newborns revealed chorioretinitis as the predominant manifestation. To investigate parasite diversity, we performed genotyping of T. gondii strains using in silico PCR-RFLP following molecular detection. Our findings revealed substantial genetic diversity, including novel allele combinations not previously described in the region. These results highlight both the continued public health burden and the evolving genetic landscape of T. gondii in Uruguay. Our findings underscore the need to strengthen surveillance and prevention strategies for congenital toxoplasmosis in South America.
The near-axis description of optimised stellarators, at second order in the expansion, provides important information about the field, both of physical and practical importance for stellarator optimisation. It, however, remains relatively underdeveloped for an important class of such stellarators, called quasi-isodynamic (QI). In this paper we develop the theoretical and numerical framework, applying the second-order omnigeneity conditions derived in Rodríguez & Plunk (2023), to make explicit construction of equilibrium solutions. We find that the case of QI stellarators calls for the careful treatment of continuity, smoothness and periodicity of the various functions involved, especially for so-called half-helicity fields, which feature prominently in existing QI designs. The numerical implementation of necessary elements is described, and several examples are constructed and quantitatively verified in detail. This work establishes a basis for further systematic exploration of the space of QI stellarators, and the development of both theoretical and practical tools to facilitate effective optimisation of QI stellarators.
Haemosporidians constitute a monophyletic group of vector-borne parasites that infect a wide range of vertebrate hosts, including Neotropical lizards. The remarkable diversity of these host-parasite associations and inadequate research on certain parasite groups have resulted in controversial haemosporidian taxonomy. Herein, we rediscover erythrocytic and non-erythrocytic haemosporidians infecting golden tegus (Tupinambis teguixin) from Brazil and Colombia. The erythrocyte-inhabiting parasite belongs to Plasmodium sp., and the non-erythrocytic form was identified as Saurocytozoon tupinambi, previously attributed to the Family Leucocytozoidae. These non-pigmented haemosporidian parasites do not multiply in the blood. The relationships between the Saurocytozoon and Leucocytozoidae species were discussed for many years, especially during the 1970s. However, cytochrome b (cytb) sequences and the mitochondrial genomes recovered for this species strongly support classifying this parasite as a Plasmodium taxon. Therefore, we proposed a new combination for this parasite, Plasmodium (Saurocytozoon) tupinambi comb. nov., where Saurocytozoon is retained as a subgenus due to its distinct morphology. These results reinforce that a broader definition of Plasmodiidae must include saurian parasites that develop non-pigmented leucocytozoid-like gametocytes.
We provide an assessment of the Infinity Two fusion pilot plant (FPP) baseline plasma physics design. Infinity Two is a four-field period, aspect ratio $A = 10$, quasi-isodynamic stellarator with improved confinement appealing to a max-$J$ approach, elevated plasma density and high magnetic fields ($ \langle B\rangle = 9$ T). Here $J$ denotes the second adiabatic invariant. At the envisioned operating point ($800$ MW deuterium-tritium (DT) fusion), the configuration has robust magnetic surfaces based on magnetohydrodynamic (MHD) equilibrium calculations and is stable to both local and global MHD instabilities. The configuration has excellent confinement properties with small neoclassical transport and low bootstrap current ($|I_{bootstrap}| \sim 2$ kA). Calculations of collisional alpha-particle confinement in a DT FPP scenario show small energy losses to the first wall (${\lt}1.5 \,\%$) and stable energetic particle/Alfvén eigenmodes at high ion density. Low turbulent transport is produced using a combination of density profile control consistent with pellet fueling and reduced stiffness to turbulent transport via three-dimensional shaping. Transport simulations with the T3D-GX-SFINCS code suite with self-consistent turbulent and neoclassical transport predict that the DT fusion power$P_{{fus}}=800$ MW operating point is attainable with high fusion gain ($Q=40$) at volume-averaged electron densities $n_e\approx 2 \times 10^{20}$ m$^{-3}$, below the Sudo density limit. Additional transport calculations show that an ignited ($Q=\infty$) solution is available at slightly higher density ($2.2 \times 10^{20}$ m$^{-3}$) with $P_{{fus}}=1.5$ GW. The magnetic configuration is defined by a magnetic coil set with sufficient room for an island divertor, shielding and blanket solutions with tritium breeding ratios (TBR) above unity. An optimistic estimate for the gas-cooled solid breeder designed helium-cooled pebble bed is TBR $\sim 1.3$. Infinity Two satisfies the physics requirements of a stellarator fusion pilot plant.
The fortune jack (Seriola peruana), a pelagic fish typically found along the Tropical Eastern Pacific, has been recorded in the northernmost Gulf of California (GC) region. The first record in the Upper Gulf and habitat expansion of S. peruana is reported based on the meristic, morphometric, and biological data of three specimens caught by local artisanal fishermen in April 2024. The lack of commercial value likely explains the region's absence of records for this species. The increased presence of S. peruana distribution in the Upper GC could have significant ecological implications, which warrants further fish habitat use and climate change research.
The course of depression is heterogeneous. The employed treatment is a key element in the impact of the course of depression over the time. However, there is currently a gap of knowledge about the trajectories per treatment and related baseline factors. We aimed to identify trajectories of depressive symptoms and associated baseline characteristics for two treatment arms in a randomized clinical trial: treatment as usual (TAU) or TAU plus transdiagnostic group cognitive behavioral therapy (TAU + TDG-CBT).
Methods
Growth mixture modeling (GMM) was used to identify trajectories of depressive symptoms over 12 months post-treatment. Logistic regression models were used to examine associations between baseline characteristics and trajectory class membership in 483 patients (TAU: 231; TAU + TDG-CBT: 251).
Results
We identified different patterns of symptom change in the randomized groups: two trajectories in TAU (‘improvement’ (71.4%) and ‘no improvement’ (28.6%)), and four trajectories in TAU + TDG-CBT (‘recovery’ (69.8%), ‘late recovery’ (5.95%), ‘chronicity’ (4.77%), and ‘relapse’ (19.44%)). Higher baseline symptom severity and comorbidity were associated with poorer treatment outcomes in both treatment groups and worse emotional regulation strategies were linked to the ‘no improvement trajectory’ in TAU. The TAU + TDG-CBT group demonstrated greater symptom reduction compared to TAU alone.
Conclusions
There is heterogeneity in treatment outcomes. Integration of TDG-CBT with TAU significantly improves symptom reduction compared to TAU alone. Patients with higher baseline severity and comorbidities show poorer outcomes. Identification of trajectories and related factors could assist clinicians in tailoring treatment strategies to optimize outcomes, particularly for patients with a worse prognosis.
We construct a description of ion-temperature-gradient (ITG)-driven localised linear modes which retains both wave–particle and magnetic drift resonant effects while capturing the field-line dependence of the electrostatic potential. We exploit the smallness of the magnetic drift and the strong localisation of the mode to resolve the problem with a polynomial–Gaussian expansion in the field-following coordinate. A simple semianalytical formula for the spectrum of the mode is shown to capture long wavelength Landau damping, ion-scale Larmor radius stabilisation, weakening of Larmor radius effects at short wavelengths and magnetic-drift resonant stabilisation. These elements lead to linear spectra with multiple maxima as observed in gyrokinetic simulations in stellarators. Connections to the transition to extended eigenfunctions and those localised by less unfavourable curvature regions (hopping solutions) are also made. The model provides a clear qualitative framework with which to interpret numerically simulated ITG modes’ linear spectra with realistic geometries, despite its limitations for exact quantitative predictions.
To understand healthcare workers’ (HCWs) beliefs and practices toward blood culture (BCx) use.
Design:
Cross-sectional electronic survey and semi-structured interviews.
Setting:
Academic hospitals in the United States.
Participants:
HCWs involved in BCx ordering and collection in adult intensive care units (ICU) and wards.
Methods:
We administered an anonymous electronic survey to HCWs and conducted semi-structured interviews with unit staff and quality improvement (QI) leaders in these institutions to understand their perspectives regarding BCx stewardship between February and November 2023.
Results:
Of 314 HCWs who responded to the survey, most (67.4%) were physicians and were involved in BCx ordering (82.3%). Most survey respondents reported that clinicians had a low threshold to culture patients for fever (84.4%) and agreed they could safely reduce the number of BCx obtained in their units (65%). However, only half of them believed BCx was overused. Although most made BCx decisions as a team (74.1%), a minority reported these team discussions occurred daily (42.4%). A third of respondents reported not usually collecting the correct volume per BCx bottle, half were unaware of the improved sensitivity of 2 BCx sets, and most were unsure of the nationally recommended BCx contamination threshold (87.5%). Knowledge regarding the utility of BCx for common infections was limited.
Conclusions:
HCWs’ understanding of best collection practices and yield of BCx was limited.
This abstract was presented as the Nutrition in the Treatment, Management and Prevention of Disease Theme Highlight.
Chronic constipation is a prevalent gastrointestinal condition affecting approximately 10% of the global population(1) and is associated with substantial healthcare costs and quality of life impairments in the UK(2). While the aetiology of chronic constipation is not fully understood, lower dietary fibre intake is associated with greater risk of constipation(3) and consumption of fruits, vegetables, and wholegrains is recommended within clinical guidelines. Although not diagnostic for constipation, low stool weight is a common feature and is associated with greater risk of colorectal cancer(4); yet few studies have ever measured stool weight in constipation. This study investigated associations between frequency of plant food intake and stool weight in people with constipation.
Baseline data from a dietary intervention trial were analysed, which included participants meeting Rome IV criteria for constipation. Self-reported data on habitual consumption of nine plant food categories were collected using a validated tool. Participants performed 7-day total stool collection, which was weighed on the same weighing scales at the research centre. Associations between intake frequency for each plant food category and daily stool weight (total stool weight divided by 7 days) were analysed using independent-samples t-tests (SPSS, version 28, p<0.05 considered significant).
Ninety-nine people with Rome IV constipation (89% female; mean [ ±SD] age 32.4 [ ± 12.4] y; BMI 23.0 [ ±3.2] kg/m2) provided 7-day total stool collections. Mean ( ± SD) stool weight was 72.5±47.2 g/day (minimum 2.1 g/day; maximum 280.6 g/day). Stool weight was significantly higher among those consuming fruit once or more per day (86.2±48.2 g/day), compared with those consuming fruit less than once per day (62.4±44.1 g/day; p = 0.012). Stool weight was also higher among those consuming vegetables once or more per day (98.6±59.1 g/day) compared with those eating vegetables less than once per day (62.2±37.2 g/day; p<0.001). Differences for green salad (79.6±52.1 g/day; 63.3±38.5 g/day; p = 0.088) and high-fibre breads (84.1±46.6 g/day; 65.1±46.6 g/day; p = 0.05) were borderline significant, when comparing those consuming these more than once per week, compared with once or less per week (respectively). No significant differences were found for frequency of consuming fruit juices, potatoes, vegetable soups/stews, high-fibre cereals, or beans and lentils.
This is the most comprehensive analysis to date of measured stool weight in constipation, and its association with plant food intake. Despite presence of constipation, participants with higher intakes of fruit and vegetables had a greater daily stool weight; an important feature associated with lower colorectal cancer risk(4). However, intakes were not sufficient to manage their constipation symptoms. Intervention studies investigating potential benefits from increasing fruit and vegetable intakes in people with constipation are required and are currently underway.
Both childhood adversity (CA) and first-episode psychosis (FEP) have been linked to alterations in cortical thickness (CT). The interactive effects between different types of CAs and FEP on CT remain understudied.
Methods
One-hundred sixteen individuals with FEP (mean age = 23.8 ± 6.9 years, 34% females, 80.2% non-affective FEP) and 98 healthy controls (HCs) (mean age = 24.4 ± 6.2 years, 43% females) reported the presence/absence of CA <17 years using an adapted version of the Childhood Experience of Care and Abuse (CECA.Q) and the Retrospective Bullying Questionnaire (RBQ) and underwent magnetic resonance imaging (MRI) scans. Correlation analyses were used to assess associations between brain maps of CA and FEP effects. General linear models (GLMs) were performed to assess the interaction effects of CA and FEP on CT.
Results
Eighty-three individuals with FEP and 83 HCs reported exposure to at least one CA. CT alterations in FEP were similar to those found in participants exposed to separation from parents, bullying, parental discord, household poverty, and sexual abuse (r = 0.50 to 0.25). Exposure to neglect (β = −0.24, 95% CI [−0.37 to −0.12], p = 0.016) and overall maltreatment (β = −0.13, 95% CI [−0.20 to −0.06], p = 0.043) were associated with cortical thinning in the right medial orbitofrontal region.
Conclusions
Cortical alterations in individuals with FEP are similar to those observed in the context of socio-environmental adversity. Neglect and maltreatment may contribute to CT reductions in FEP. Our findings provide new insights into the specific neurobiological effects of CA in early psychosis.
The association between cannabis and psychosis is established, but the role of underlying genetics is unclear. We used data from the EU-GEI case-control study and UK Biobank to examine the independent and combined effect of heavy cannabis use and schizophrenia polygenic risk score (PRS) on risk for psychosis.
Methods
Genome-wide association study summary statistics from the Psychiatric Genomics Consortium and the Genomic Psychiatry Cohort were used to calculate schizophrenia and cannabis use disorder (CUD) PRS for 1098 participants from the EU-GEI study and 143600 from the UK Biobank. Both datasets had information on cannabis use.
Results
In both samples, schizophrenia PRS and cannabis use independently increased risk of psychosis. Schizophrenia PRS was not associated with patterns of cannabis use in the EU-GEI cases or controls or UK Biobank cases. It was associated with lifetime and daily cannabis use among UK Biobank participants without psychosis, but the effect was substantially reduced when CUD PRS was included in the model. In the EU-GEI sample, regular users of high-potency cannabis had the highest odds of being a case independently of schizophrenia PRS (OR daily use high-potency cannabis adjusted for PRS = 5.09, 95% CI 3.08–8.43, p = 3.21 × 10−10). We found no evidence of interaction between schizophrenia PRS and patterns of cannabis use.
Conclusions
Regular use of high-potency cannabis remains a strong predictor of psychotic disorder independently of schizophrenia PRS, which does not seem to be associated with heavy cannabis use. These are important findings at a time of increasing use and potency of cannabis worldwide.
Background and Aim: Puerto Rico is experiencing a rapidly aging society. In old age, it is common to experience one or more chronic diseases that require special attention. If not properly addressed, these health conditions can reduce functionality in daily activities. Some risk factors that can affect health and functionality include sedentary lifestyle, social isolation, and unhealthy lifestyles. To reduce these risk factors, it is necessary to implement health promotion measures aimed at improving the well-being of older adults. Brain Dance has a positive impact on the health of older adults. Its benefits include increasing circulation, reorganizing the neurological system, reducing stress, maintaining joint flexibility, and being aware of the communication between body and mind. The aim was to promote the health of older adults through the 8 Movement Patterns of Brain Dance at CAMPEA, Santa Monica, Bayamón, during the months of March to May 2023.
Methods: A collaboration agreement was established between the Geriatric Research and Education Center and CAMPEA to train older adults and service providers on the benefits of Brain Dance, and educational materials were provided to complement the activities.
Results: The program was implemented as designed. A total of 12 older adults, 60+ practiced Brain Dance and 6 direct services providers were trained on the benefits of Brain Dance in older adults. An infographic with the Eight Movements Patterns was designed and distributed to older adults and services providers.
Conclusions: Older adults reported that engaging in Brain Dance helped them to increase their confidence, bring back memories from the past, strengthen their group interactions, gain new knowledge, develop new skills, self- discover, pay greater attention to the connection between their mind and body, and achieve a state of joy.
Background and Aims: The growth of the elderly population poses challenges and opportunities in society. As we age, normal changes occur that can affect functionality and independence. Aging is associated with brain changes that result in cognitive decline. The most common cause of cognitive decline among the elderly is Alzheimer’s disease (AD). It is characterized by a progressive spectrum of memory problems that affect the functional capacity of the elderly and their ability to perform activities of daily living, increasing the level of dependence and the social, emotional, and economic burden on caregivers. Alzheimer’s disease is the 6th leading cause of death in the United States and the 4th leading cause of death in Puerto Rico. These challenges can only be addressed through clinical research for managing conditions, non-pharmacological treatments and therapies, and educational initiatives covering basic aspects of geriatrics aimed at healthcare professionals, direct service providers, and caregivers. These efforts will provide effective management alternatives when intervening with the elderly population and the public. The aims are: to discuss the educational initiative with Dominican caregivers, to review advances in Alzheimer’s disease research, to present the translation and cultural validation of Cognitive Stimulation Therapy as a non-pharmacological intervention for patients in the early stages of MCI and Alzheimer’s, and to raise awareness about the importance of physical literacy through the eight (8) Movement Patterns of Brain Dance for older adults.
Cannabis use and familial vulnerability to psychosis have been associated with social cognition deficits. This study examined the potential relationship between cannabis use and cognitive biases underlying social cognition and functioning in patients with first episode psychosis (FEP), their siblings, and controls.
Methods
We analyzed a sample of 543 participants with FEP, 203 siblings, and 1168 controls from the EU-GEI study using a correlational design. We used logistic regression analyses to examine the influence of clinical group, lifetime cannabis use frequency, and potency of cannabis use on cognitive biases, accounting for demographic and cognitive variables.
Results
FEP patients showed increased odds of facial recognition processing (FRP) deficits (OR = 1.642, CI 1.123–2.402) relative to controls but not of speech illusions (SI) or jumping to conclusions (JTC) bias, with no statistically significant differences relative to siblings. Daily and occasional lifetime cannabis use were associated with decreased odds of SI (OR = 0.605, CI 0.368–0.997 and OR = 0.646, CI 0.457–0.913 respectively) and JTC bias (OR = 0.625, CI 0.422–0.925 and OR = 0.602, CI 0.460–0.787 respectively) compared with lifetime abstinence, but not with FRP deficits, in the whole sample. Within the cannabis user group, low-potency cannabis use was associated with increased odds of SI (OR = 1.829, CI 1.297–2.578, FRP deficits (OR = 1.393, CI 1.031–1.882, and JTC (OR = 1.661, CI 1.271–2.171) relative to high-potency cannabis use, with comparable effects in the three clinical groups.
Conclusions
Our findings suggest increased odds of cognitive biases in FEP patients who have never used cannabis and in low-potency users. Future studies should elucidate this association and its potential implications.
During a 2019 Chilean Antarctic Scientific Expedition (ECA 55) studying crustose coralline algae (CCA) diversity on the Antarctic Peninsula, bleaching of these algae was observed for the first time in this region. Here, we present initial findings on the physiological state of bleached and normally pigmented CCA (Clathromorphum sp.) assessed using chlorophyll-a fluorescence induction pulse amplitude modulation. The study site experienced high light exposure and salinity in the water column. Our analyses found that bleached CCA have relatively healthy photophysiology responses but lower photosynthetic efficiency, which could be associated with the low salinities recorded in the study area. However, seasonal monitoring and mesocosm experiments across the southern polar latitudes are urgently required to confirm this hypothesis.